Variant report

Variant	rs17136058
Chromosome Location	chr7:6212911-6212912
allele	A/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	POLR2A	chr7:6212536-6213133	GM12891	blood:	n/a	n/a
2	POLR2A	chr7:6212670-6213018	GM12891	blood:	n/a	n/a
3	POLR2A	chr7:6212900-6213131	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:6212659-6213051	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CYTH3	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10266466	0.86[ASN][1000 genomes]
rs11535148	1.00[EUR][1000 genomes]
rs11543636	1.00[EUR][1000 genomes]
rs11543689	1.00[EUR][1000 genomes]
rs12671407	1.00[CEU][hapmap]
rs12672392	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17136102	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs3750063	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3750064	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs3812264	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3828952	1.00[CEU][hapmap]
rs59795548	0.82[EUR][1000 genomes]
rs60977467	1.00[EUR][1000 genomes]
rs763820	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7790350	0.87[EUR][1000 genomes]
rs886676	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
11	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:110 , 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	chr7:6184000-6218600	Strong transcription	Fetal Intestine Small	intestine
3	chr7:6198800-6220000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:6199200-6219200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:6199400-6213800	Strong transcription	Fetal Intestine Large	intestine
6	chr7:6201400-6219200	Weak transcription	K562	blood
7	chr7:6201800-6215000	Weak transcription	Hela-S3	cervix
8	chr7:6201800-6215200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:6201800-6226400	Weak transcription	Liver	Liver
10	chr7:6202000-6213400	Strong transcription	Gastric	stomach
11	chr7:6202000-6215000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:6202000-6230600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:6202200-6216800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:6202400-6215000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr7:6202400-6218000	Weak transcription	Small Intestine	intestine
16	chr7:6202400-6226600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:6202400-6238000	Weak transcription	Fetal Kidney	kidney
18	chr7:6202600-6218000	Weak transcription	Psoas Muscle	Psoas
19	chr7:6202600-6228200	Weak transcription	Dnd41	blood
20	chr7:6203800-6218000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:6204200-6213000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:6204600-6217000	Weak transcription	GM12878-XiMat	blood
23	chr7:6204600-6228000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:6204800-6216400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:6204800-6216600	Weak transcription	Primary T cells from cord blood	blood
26	chr7:6205000-6215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:6207800-6229800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:6208200-6219600	Weak transcription	Fetal Thymus	thymus
29	chr7:6209400-6213200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:6209400-6213400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:6209600-6230000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:6209800-6218000	Weak transcription	Brain Angular Gyrus	brain
33	chr7:6210000-6219400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:6210000-6230000	Weak transcription	Brain Substantia Nigra	brain
35	chr7:6210200-6219200	Weak transcription	Fetal Brain Male	brain
36	chr7:6210400-6216400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:6210600-6213000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:6210600-6213400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:6210600-6214400	Weak transcription	Fetal Lung	lung
40	chr7:6210600-6216400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:6210600-6228000	Weak transcription	Thymus	Thymus
42	chr7:6210800-6213000	Genic enhancers	Fetal Muscle Leg	muscle
43	chr7:6210800-6213200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:6210800-6216600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:6210800-6217200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:6210800-6229600	Weak transcription	Colonic Mucosa	Colon
47	chr7:6210800-6230000	Strong transcription	Fetal Stomach	stomach
48	chr7:6211000-6215200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:6211000-6215200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:6211000-6226200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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