Variant report

Variant	rs60733257
Chromosome Location	chr9:71792460-71792461
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71785836..71791669-chr9:71792328..71797551,11	K562	blood:
2	chr9:71733168..71738729-chr9:71786929..71793777,10	MCF-7	breast:
3	chr9:71791754..71794017-chr9:71958010..71960976,2	K562	blood:
4	chr9:71668853..71671288-chr9:71790657..71793201,2	MCF-7	breast:
5	chr9:71734142..71739001-chr9:71788032..71795507,11	MCF-7	breast:
6	chr9:71668771..71670774-chr9:71790512..71793503,2	MCF-7	breast:
7	chr9:71781811..71784022-chr9:71792209..71795522,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119139	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11999809	1.00[AMR][1000 genomes]
rs12000900	1.00[AMR][1000 genomes]
rs12001142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001188	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001706	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001842	1.00[AMR][1000 genomes]
rs12001863	1.00[AMR][1000 genomes]
rs12005295	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17062723	1.00[AMR][1000 genomes]
rs35464930	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35797487	1.00[AMR][1000 genomes]
rs4278214	1.00[AMR][1000 genomes]
rs61056981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7027812	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73447162	1.00[AMR][1000 genomes]
rs73647077	1.00[AMR][1000 genomes]
rs73647078	1.00[AMR][1000 genomes]
rs73647079	1.00[AMR][1000 genomes]
rs73647080	1.00[AMR][1000 genomes]
rs73647081	1.00[AMR][1000 genomes]
rs73647083	1.00[AMR][1000 genomes]
rs73647084	1.00[AMR][1000 genomes]
rs73647085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647086	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647087	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647088	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73649624	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73649625	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73649626	0.83[AFR][1000 genomes]
rs7864925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7872016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9785300	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking 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	27 gene(s)	inside rSNPs	diseases
6	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats 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
12	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv466397	chr9:71574757-71843023	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv614550	chr9:71574757-71843023	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv1050692	chr9:71578494-71843023	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv893416	chr9:71597840-71888601	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
17	nsv1040539	chr9:71600042-71844108	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking 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	20 gene(s)	inside rSNPs	diseases
18	nsv540149	chr9:71600042-71844108	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv949664	chr9:71607398-71842391	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv948708	chr9:71632265-71842391	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv1037787	chr9:71635338-71807648	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv540151	chr9:71635338-71807648	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv817209	chr9:71675454-71829412	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
25	nsv508550	chr9:71679166-71809433	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv893427	chr9:71762766-71858517	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71788200-71797200	Enhancers	Stomach Mucosa	stomach
2	chr9:71790200-71793400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr9:71790400-71792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:71790400-71793000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:71790400-71793200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr9:71790400-71795200	Enhancers	HUVEC	blood vessel
7	chr9:71790400-71795400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:71790400-71795400	Weak transcription	Pancreas	Pancrea
9	chr9:71790400-71795600	Weak transcription	Spleen	Spleen
10	chr9:71790400-71796800	Weak transcription	Esophagus	oesophagus
11	chr9:71790400-71832200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:71790400-71835600	Weak transcription	Colonic Mucosa	Colon
13	chr9:71790600-71793000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:71790600-71793400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:71790600-71793600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr9:71790600-71795200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr9:71790800-71793200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr9:71790800-71793400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:71790800-71793400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:71790800-71795000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr9:71790800-71797000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:71790800-71797000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr9:71790800-71800800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:71790800-71802200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:71791000-71792800	Weak transcription	Fetal Lung	lung
26	chr9:71791000-71793400	Weak transcription	Ovary	ovary
27	chr9:71791000-71793400	Enhancers	HMEC	breast
28	chr9:71791000-71793800	Enhancers	Fetal Heart	heart
29	chr9:71791000-71795600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr9:71791000-71796800	Weak transcription	Right Atrium	heart
31	chr9:71791200-71792800	Weak transcription	NH-A	brain
32	chr9:71791200-71793000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:71791200-71793000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:71791200-71793000	Weak transcription	Brain Angular Gyrus	brain
35	chr9:71791200-71793000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr9:71791200-71793200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:71791200-71793200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:71791200-71793200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr9:71791200-71793600	Weak transcription	HSMM	muscle
40	chr9:71791200-71793800	Enhancers	Fetal Intestine Small	intestine
41	chr9:71791200-71793800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr9:71791200-71794000	Enhancers	NHLF	lung
43	chr9:71791200-71794400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:71791200-71794400	Enhancers	Brain Substantia Nigra	brain
45	chr9:71791200-71795200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr9:71791200-71796000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr9:71791200-71797200	Enhancers	Osteobl	bone
48	chr9:71791200-71797800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:71791200-71802000	Weak transcription	Aorta	Aorta
50	chr9:71791200-71807600	Weak transcription	Psoas Muscle	Psoas

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