Variant report

Variant	rs35322368
Chromosome Location	chr9:97850127-97850128
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	RAD21	chr9:97850050-97850306	Hela-S3	cervix:	n/a	chr9:97850180-97850192 chr9:97850178-97850191 chr9:97850175-97850194 chr9:97850180-97850190
2	CTCF	chr9:97850100-97850250	WERI-Rb-1	eye:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
3	POLR2A	chr9:97850023-97850347	K562	blood:	n/a	n/a
4	CREB1	chr9:97850001-97850247	A549	lung:	n/a	n/a
5	CTCF	chr9:97850063-97850264	HepG2	liver:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
6	TCF12	chr9:97849738-97850518	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr9:97850120-97850270	AG09309	skin:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
8	CTCF	chr9:97850040-97850190	GM12865	blood:	n/a	chr9:97850177-97850190
9	CTCF	chr9:97850080-97850230	AG09319	gingival:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
10	CTCF	chr9:97850120-97850270	HBMEC	blood vessel:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
11	CTCF	chr9:97850100-97850250	HCT-116	colon:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
12	CTCF	chr9:97850073-97850275	GM12878	blood:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
13	CTCF	chr9:97850060-97850210	AG09309	skin:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
14	CTCF	chr9:97850040-97850190	GM12864	blood:	n/a	chr9:97850177-97850190
15	CTCF	chr9:97850060-97850210	MCF-7	breast:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
16	BCL3	chr9:97849652-97856909	A549	lung:	n/a	chr9:97849910-97849923 chr9:97856480-97856489 chr9:97852058-97852071
17	CTCF	chr9:97850055-97850284	H1-hESC	embryonic stem cell:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
18	POLR2A	chr9:97850040-97850222	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr9:97850036-97850298	NHEK	skin:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
20	BCL3	chr9:97849737-97850530	A549	lung:	n/a	chr9:97849910-97849923
21	SMC3	chr9:97850011-97850327	Hela-S3	cervix:	n/a	chr9:97850180-97850190 chr9:97850176-97850190
22	POLR2A	chr9:97849978-97850346	HepG2	liver:	n/a	n/a
23	CTCF	chr9:97850080-97850230	BJ	skin:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
24	CTCF	chr9:97850100-97850250	WI-38	lung:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
25	RAD21	chr9:97850009-97850426	H1-hESC	embryonic stem cell:	n/a	chr9:97850180-97850192 chr9:97850178-97850191 chr9:97850175-97850194 chr9:97850180-97850190
26	CTCF	chr9:97850060-97850210	HVMF	connective:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
27	CTCF	chr9:97850053-97850274	GM12891	blood:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
28	CTCF	chr9:97850040-97850190	K562	blood:	n/a	chr9:97850177-97850190
29	CTCF	chr9:97850100-97850250	HMEC	breast:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
30	CTCF	chr9:97850067-97850268	GM19238	blood:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
31	CTCF	chr9:97850040-97850190	NHEK	skin:	n/a	chr9:97850177-97850190
32	CTCF	chr9:97850100-97850250	AG09319	gingival:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
33	CTCF	chr9:97850046-97850282	Hela-S3	cervix:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
34	CTCF	chr9:97850080-97850230	SAEC	small airway:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
35	CTCF	chr9:97850060-97850210	GM12869	blood:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
36	RAD21	chr9:97849856-97850419	ECC-1	luminal epithelium:	n/a	chr9:97850180-97850192 chr9:97850178-97850191 chr9:97850175-97850194 chr9:97850180-97850190
37	CTCF	chr9:97850080-97850230	GM12873	blood:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
38	CTCF	chr9:97850081-97850260	K562	blood:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
39	TCF12	chr9:97849698-97856389	A549	lung:	n/a	chr9:97854161-97854171 chr9:97855868-97855877 chr9:97853824-97853834
40	TCF12	chr9:97849783-97850425	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr9:97849945-97850402	A549	lung:	n/a	n/a
42	CTCF	chr9:97850080-97850230	HA-sp	spinal cord:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
43	POLR2A	chr9:97850105-97850294	ProgFib	skin:	n/a	n/a
44	POLR2A	chr9:97849937-97850438	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr9:97850080-97850235	GM19239	blood:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
46	CTCF	chr9:97850083-97850244	MCF-7	breast:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
47	CTCF	chr9:97850100-97850250	GM12873	blood:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
48	CTCF	chr9:97850103-97850217	Pancreas_OC	pancreas:	n/a	chr9:97850174-97850192 chr9:97850177-97850190
49	ZNF143	chr9:97850122-97850283	K562	blood:	n/a	n/a
50	CTCF	chr9:97850081-97850252	GM12892	blood:	n/a	chr9:97850174-97850192 chr9:97850177-97850190

No.	Distal block	Cell Line	Cell type
1	chr9:97542830..97545595-chr9:97848570..97851188,3	MCF-7	breast:
2	chr9:97848613..97851879-chr9:97854740..97857228,3	K562	blood:
3	chr9:97682387..97688736-chr9:97850073..97858737,16	MCF-7	breast:
4	chr9:97849794..97850649-chr9:97889635..97890557,2	MCF-7	breast:
5	chr9:97849931..97850617-chr9:97865009..97865810,2	MCF-7	breast:
6	chr9:97688794..97691032-chr9:97848721..97850468,2	MCF-7	breast:
7	chr9:97763635..97773461-chr9:97847821..97861280,36	MCF-7	breast:

Variant related genes	Relation type
MIR3074	TF binding region
ENSG00000158169	Chromatin interaction
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13292454	1.00[AFR][1000 genomes]
rs13294276	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7871699	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038106	chr9:97793038-97881416	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
3	nsv1038523	chr9:97797032-97923774	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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 miRNA target site	274 gene(s)	inside rSNPs	diseases
4	nsv540175	chr9:97797032-97923774	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
5	nsv831656	chr9:97831551-97989980	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97813000-97873000	Weak transcription	K562	blood
2	chr9:97820000-97854200	Weak transcription	Fetal Brain Male	brain
3	chr9:97820600-97875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr9:97825400-97854400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr9:97825800-97852600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:97838000-97871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr9:97839600-97850400	Strong transcription	HepG2	liver
8	chr9:97839600-97851000	Genic enhancers	A549	lung
9	chr9:97840800-97851800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr9:97841200-97864400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:97841400-97853000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:97841600-97855000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr9:97841800-97851600	Strong transcription	Fetal Intestine Small	intestine
14	chr9:97841800-97853800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:97841800-97854000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr9:97842200-97850600	Strong transcription	Fetal Lung	lung
17	chr9:97842200-97852000	Strong transcription	NHEK	skin
18	chr9:97842400-97850200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:97842400-97852600	Strong transcription	Fetal Intestine Large	intestine
20	chr9:97842400-97854200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr9:97842800-97850800	Strong transcription	Placenta	Placenta
22	chr9:97843000-97850200	Strong transcription	Adipose Nuclei	Adipose
23	chr9:97843200-97851600	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr9:97843200-97851800	Genic enhancers	Brain Hippocampus Middle	brain
25	chr9:97843200-97852400	Genic enhancers	Rectal Smooth Muscle	rectum
26	chr9:97843600-97850200	Strong transcription	Ovary	ovary
27	chr9:97843600-97853400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:97844000-97854800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:97844000-97898400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr9:97844400-97852200	Strong transcription	Fetal Stomach	stomach
31	chr9:97844400-97854200	Weak transcription	Brain Germinal Matrix	brain
32	chr9:97845000-97852600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr9:97845400-97850200	Weak transcription	Fetal Thymus	thymus
34	chr9:97845800-97854400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr9:97845800-97854400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr9:97846000-97850800	Weak transcription	Right Atrium	heart
37	chr9:97846000-97853000	Weak transcription	Fetal Kidney	kidney
38	chr9:97846000-97853200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr9:97846000-97853800	Weak transcription	GM12878-XiMat	blood
40	chr9:97846000-97861600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr9:97846200-97851200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr9:97846200-97853400	Weak transcription	Small Intestine	intestine
43	chr9:97846200-97853600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr9:97846200-97880000	Weak transcription	Primary B cells from cord blood	blood
45	chr9:97847000-97852600	Genic enhancers	Colon Smooth Muscle	Colon
46	chr9:97847000-97853600	Genic enhancers	Muscle Satellite Cultured Cells	--
47	chr9:97847200-97851800	Genic enhancers	Esophagus	oesophagus
48	chr9:97847200-97852800	Genic enhancers	HSMM	muscle
49	chr9:97847200-97853200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:97847200-97854000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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