Variant report

Variant	rs61041133
Chromosome Location	chr9:136859049-136859050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr9:136857838-136859076	ECC-1	luminal epithelium:	n/a	chr9:136858646-136858655
2	CTCF	chr9:136857853-136859138	SK-N-SH	brain:	n/a	chr9:136859119-136859132
3	CTCF	chr9:136859004-136860729	MCF-7	breast:	n/a	chr9:136859681-136859702 chr9:136859686-136859704 chr9:136860260-136860278 chr9:136860299-136860317 chr9:136859688-136859701 chr9:136859119-136859132 chr9:136859559-136859568 chr9:136859692-136859701 chr9:136860263-136860272 chr9:136860265-136860275 chr9:136859687-136859703 chr9:136859689-136859699
4	POLR2A	chr9:136855888-136859291	Hela-S3	cervix:	n/a	n/a
5	SMC3	chr9:136854840-136860653	SK-N-SH	brain:	n/a	chr9:136859688-136859698 chr9:136859731-136859741 chr9:136858943-136858953 chr9:136855901-136855911 chr9:136860262-136860276 chr9:136859694-136859702 chr9:136859688-136859702 chr9:136856794-136856804
6	GABPA	chr9:136858853-136859296	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAZ	chr9:136857102-136859059	IMR90	lung:	n/a	chr9:136857600-136857610 chr9:136858076-136858086 chr9:136858420-136858430 chr9:136857597-136857612 chr9:136857599-136857608 chr9:136857602-136857609 chr9:136857601-136857610
8	MTA3	chr9:136857961-136859177	GM12878	blood:	n/a	n/a
9	MXI1	chr9:136854861-136860307	IMR90	lung:	n/a	chr9:136856083-136856098 chr9:136859143-136859152
10	POLR2A	chr9:136855907-136859282	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:136657412..136658751-chr9:136858523..136860164,12	K562	blood:
2	chr9:136657819..136658763-chr9:136858806..136859951,5	MCF-7	breast:
3	chr9:136594711..136597550-chr9:136858767..136860355,2	MCF-7	breast:
4	chr9:136647007..136648956-chr9:136858795..136860235,12	MCF-7	breast:
5	chr9:136217971..136219533-chr9:136857799..136859450,2	MCF-7	breast:
6	chr9:136657461..136661655-chr9:136857893..136859866,4	K562	blood:
7	chr9:136835959..136838306-chr9:136857880..136859486,2	MCF-7	breast:
8	chr9:136855194..136860597-chr9:136929703..136933650,7	MCF-7	breast:
9	chr9:136600362..136604558-chr9:136857405..136860234,5	MCF-7	breast:
10	chr9:136655962..136656512-chr9:136858875..136859685,2	K562	blood:
11	chr9:136857193..136859735-chr9:136888278..136891342,4	MCF-7	breast:
12	chr9:136646919..136648935-chr9:136858713..136860466,10	MCF-7	breast:
13	chr9:136625089..136627399-chr9:136858004..136860328,2	MCF-7	breast:
14	chr9:136608029..136608531-chr9:136858192..136859169,2	MCF-7	breast:
15	chr9:136858694..136861040-chr9:136863202..136865256,2	MCF-7	breast:
16	chr9:136858439..136860470-chr9:136963479..136965806,2	MCF-7	breast:
17	chr9:136591900..136594207-chr9:136858637..136860236,2	MCF-7	breast:
18	chr9:136856335..136860882-chr9:136888369..136892368,8	MCF-7	breast:
19	chr17:58677435..58680394-chr9:136857896..136860386,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR5-7	chr9:136857728-136861324	NONHSAT135347

Variant related genes	Relation type
VAV2	TF binding region
ENSG00000169925	Chromatin interaction
ENSG00000123453	Chromatin interaction
ENSG00000235106	Chromatin interaction
ENSG00000170836	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17664384	0.96[AMR][1000 genomes]
rs2428084	0.88[AMR][1000 genomes]
rs2519827	0.88[AMR][1000 genomes]
rs55807447	0.92[AMR][1000 genomes]
rs55912976	0.92[AMR][1000 genomes]
rs56375138	0.96[AMR][1000 genomes]
rs7037625	0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv894128	chr9:136753246-136906752	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1046310	chr9:136762829-136872226	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv894130	chr9:136767346-136906752	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv831748	chr9:136788484-136944326	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv894131	chr9:136792765-136906752	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv831749	chr9:136809200-136915764	Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv894132	chr9:136813341-136950691	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv428226	chr9:136825035-136994606	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv615743	chr9:136835343-136874158	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv894133	chr9:136839840-136887757	Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv894134	chr9:136839840-136892523	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv894135	chr9:136839840-136927657	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv894136	chr9:136839840-136938961	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv894137	chr9:136839840-136950691	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
17	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
18	nsv615744	chr9:136843974-136865879	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv615745	chr9:136844973-136876021	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv825148	chr9:136848471-137025632	Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
21	nsv615746	chr9:136848821-136881323	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	esv1799134	chr9:136850906-136863033	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
23	esv1823529	chr9:136850906-136863033	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
24	esv1834445	chr9:136850906-136863033	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv615747	chr9:136852501-136877628	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv615756	chr9:136856591-136859913	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
27	esv1840870	chr9:136856591-136865879	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
28	esv1841228	chr9:136856591-136865879	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
29	esv1839642	chr9:136856591-136877902	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	esv1842103	chr9:136856591-136878235	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	esv1797477	chr9:136856591-136879116	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
32	esv1838443	chr9:136856630-136862410	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
33	nsv615763	chr9:136856694-136859913	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
34	nsv615769	chr9:136856808-136859913	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
35	esv1839298	chr9:136856808-136865879	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136858000-136859600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:136858200-136859200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:136858200-136859200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr9:136858200-136859200	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr9:136858200-136859600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr9:136858400-136859200	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr9:136858400-136859200	Flanking Active TSS	Fetal Intestine Small	intestine
8	chr9:136858400-136859200	Flanking Active TSS	Fetal Muscle Leg	muscle
9	chr9:136858400-136859200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
10	chr9:136858400-136859200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr9:136858400-136859200	Flanking Active TSS	GM12878-XiMat	blood
12	chr9:136858400-136859200	Flanking Active TSS	HSMM	muscle
13	chr9:136858400-136859400	Flanking Active TSS	NHEK	skin
14	chr9:136858400-136859600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:136858400-136859600	Flanking Active TSS	Hela-S3	cervix
16	chr9:136858400-136859800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:136858400-136860400	Enhancers	Fetal Brain Male	brain
18	chr9:136858600-136859200	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr9:136858600-136859200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr9:136858600-136859200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
21	chr9:136858600-136859200	Enhancers	Gastric	stomach
22	chr9:136858600-136859200	Flanking Active TSS	A549	lung
23	chr9:136858600-136859400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr9:136858600-136859400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:136858600-136859600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr9:136858600-136859600	Enhancers	Lung	lung
27	chr9:136858600-136859600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr9:136858600-136859600	Enhancers	Spleen	Spleen
29	chr9:136858600-136860000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr9:136858600-136860200	Enhancers	Primary B cells from cord blood	blood
31	chr9:136858800-136859200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:136858800-136859200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:136858800-136859200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:136858800-136859200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr9:136858800-136859200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
36	chr9:136858800-136859200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:136858800-136859200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:136858800-136859200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr9:136858800-136859200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:136858800-136859200	Enhancers	Psoas Muscle	Psoas
41	chr9:136858800-136859200	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr9:136858800-136859200	Flanking Active TSS	NHDF-Ad	bronchial
43	chr9:136858800-136859200	Flanking Active TSS	NHLF	lung
44	chr9:136858800-136859200	Flanking Active TSS	Osteobl	bone
45	chr9:136858800-136859400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr9:136858800-136859400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr9:136858800-136859400	Bivalent Enhancer	Thymus	Thymus
48	chr9:136858800-136859600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr9:136858800-136859600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr9:136858800-136859600	Enhancers	Primary hematopoietic stem cells	blood

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