Variant report

Variant	rs3812264
Chromosome Location	chr7:6211717-6211718
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	JUND	chr7:6211453-6211833	H1-hESC	embryonic stem cell:	n/a	chr7:6211546-6211555
2	RAD21	chr7:6211243-6211840	H1-hESC	embryonic stem cell:	n/a	chr7:6211304-6211318 chr7:6211278-6211291 chr7:6211301-6211314
3	MAX	chr7:6211252-6211777	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:6211424-6211856	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr7:6211236-6211846	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr7:6211306-6211905	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:6211525-6211763	H1-hESC	embryonic stem cell:	n/a	n/a
8	EGR1	chr7:6211328-6211757	H1-hESC	embryonic stem cell:	n/a	chr7:6211551-6211564 chr7:6211551-6211561 chr7:6211549-6211559 chr7:6211550-6211564 chr7:6211329-6211340 chr7:6211551-6211564 chr7:6211551-6211564 chr7:6211550-6211565 chr7:6211552-6211561 chr7:6211551-6211564 chr7:6211552-6211562
9	CHD2	chr7:6211312-6211829	H1-hESC	embryonic stem cell:	n/a	chr7:6211548-6211558
10	MYC	chr7:6211405-6211946	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:6211181-6212644	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:6211506-6211767	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr7:6211351-6211772	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3A	chr7:6211249-6211788	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr7:6211309-6211724	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:6211562-6212237	GM12891	blood:	n/a	n/a
17	GABPA	chr7:6211257-6211764	H1-hESC	embryonic stem cell:	n/a	chr7:6211550-6211559
18	POLR2A	chr7:6211537-6211778	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF143	chr7:6211409-6211851	H1-hESC	embryonic stem cell:	n/a	n/a
20	TBP	chr7:6211212-6211765	H1-hESC	embryonic stem cell:	n/a	chr7:6211317-6211328

Variant related genes	Relation type
CYTH3	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11535148	1.00[EUR][1000 genomes]
rs11543636	1.00[EUR][1000 genomes]
rs11543689	1.00[EUR][1000 genomes]
rs12672392	1.00[EUR][1000 genomes]
rs17136058	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17136102	0.80[AMR][1000 genomes]
rs3750063	1.00[EUR][1000 genomes]
rs3750064	0.97[EUR][1000 genomes]
rs59795548	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60977467	1.00[EUR][1000 genomes]
rs763820	1.00[EUR][1000 genomes]
rs7790350	0.87[EUR][1000 genomes]
rs886676	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats 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	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	esv1795897	chr7:6170251-6212118	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	nsv522155	chr7:6172654-6212656	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv818475	chr7:6187783-6212656	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv522217	chr7:6189780-6212656	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	nsv887426	chr7:6190126-6212656	Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	nsv887427	chr7:6190126-6213396	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
2	chr7:6181200-6211800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:6184000-6218600	Strong transcription	Fetal Intestine Small	intestine
4	chr7:6198800-6220000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:6199200-6219200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:6199400-6213800	Strong transcription	Fetal Intestine Large	intestine
7	chr7:6200400-6212600	Weak transcription	HUVEC	blood vessel
8	chr7:6201400-6219200	Weak transcription	K562	blood
9	chr7:6201800-6212200	Weak transcription	HSMM	muscle
10	chr7:6201800-6215000	Weak transcription	Hela-S3	cervix
11	chr7:6201800-6215200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:6201800-6226400	Weak transcription	Liver	Liver
13	chr7:6202000-6213400	Strong transcription	Gastric	stomach
14	chr7:6202000-6215000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:6202000-6230600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:6202200-6216800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:6202400-6215000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr7:6202400-6218000	Weak transcription	Small Intestine	intestine
19	chr7:6202400-6226600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:6202400-6238000	Weak transcription	Fetal Kidney	kidney
21	chr7:6202600-6211800	Strong transcription	NHLF	lung
22	chr7:6202600-6218000	Weak transcription	Psoas Muscle	Psoas
23	chr7:6202600-6228200	Weak transcription	Dnd41	blood
24	chr7:6203800-6218000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:6204000-6212400	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:6204200-6213000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:6204600-6217000	Weak transcription	GM12878-XiMat	blood
28	chr7:6204600-6228000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:6204800-6212600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:6204800-6216400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:6204800-6216600	Weak transcription	Primary T cells from cord blood	blood
32	chr7:6205000-6215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:6205200-6212400	Weak transcription	A549	lung
34	chr7:6205800-6212400	Weak transcription	Brain Anterior Caudate	brain
35	chr7:6206800-6212800	Strong transcription	Lung	lung
36	chr7:6207600-6212000	Weak transcription	Right Atrium	heart
37	chr7:6207600-6212600	Weak transcription	Primary B cells from cord blood	blood
38	chr7:6207800-6229800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:6208200-6219600	Weak transcription	Fetal Thymus	thymus
40	chr7:6209400-6213200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:6209400-6213400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:6209600-6211800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:6209600-6230000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:6209800-6218000	Weak transcription	Brain Angular Gyrus	brain
45	chr7:6210000-6212400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:6210000-6219400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:6210000-6230000	Weak transcription	Brain Substantia Nigra	brain
48	chr7:6210200-6219200	Weak transcription	Fetal Brain Male	brain
49	chr7:6210400-6216400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:6210600-6212200	Weak transcription	Osteobl	bone

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