Variant report

Variant	rs740134
Chromosome Location	chr7:6207350-6207351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6199470..6202116-chr7:6204941..6208439,5	K562	blood:
2	chr7:6203849..6207393-chr7:6209598..6212801,3	K562	blood:
3	chr7:6205893..6207874-chr7:6209038..6211442,3	K562	blood:
4	chr7:6202248..6204197-chr7:6205375..6207619,2	K562	blood:
5	chr7:6206063..6207710-chr7:6310368..6312250,2	MCF-7	breast:
6	chr7:6186873..6189164-chr7:6206563..6209171,2	K562	blood:

Variant related genes	Relation type
ENSG00000008256	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10240988	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17136052	0.90[CEU][hapmap]
rs17136059	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2107853	0.95[CEU][hapmap];0.94[TSI][hapmap]
rs3793202	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724793	0.85[CEU][hapmap]
rs6953241	0.95[CEU][hapmap]
rs6959740	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv527386	chr7:6187783-6208369	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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	chr7:6190000-6211200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:6194600-6211400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:6197600-6210800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:6198600-6211200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:6198800-6220000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:6199200-6208600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:6199200-6219200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:6199400-6213800	Strong transcription	Fetal Intestine Large	intestine
12	chr7:6200000-6207400	Weak transcription	Fetal Brain Male	brain
13	chr7:6200000-6209600	Weak transcription	Brain Angular Gyrus	brain
14	chr7:6200200-6209200	Strong transcription	Placenta	Placenta
15	chr7:6200400-6212600	Weak transcription	HUVEC	blood vessel
16	chr7:6200600-6210000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:6200800-6210400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:6201200-6208800	Genic enhancers	Fetal Muscle Leg	muscle
19	chr7:6201400-6219200	Weak transcription	K562	blood
20	chr7:6201800-6211200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:6201800-6212200	Weak transcription	HSMM	muscle
22	chr7:6201800-6215000	Weak transcription	Hela-S3	cervix
23	chr7:6201800-6215200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:6201800-6226400	Weak transcription	Liver	Liver
25	chr7:6202000-6213400	Strong transcription	Gastric	stomach
26	chr7:6202000-6215000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:6202000-6230600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:6202200-6209000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:6202200-6216800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:6202400-6211000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:6202400-6215000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr7:6202400-6218000	Weak transcription	Small Intestine	intestine
33	chr7:6202400-6226600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:6202400-6238000	Weak transcription	Fetal Kidney	kidney
35	chr7:6202600-6211000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:6202600-6211800	Strong transcription	NHLF	lung
37	chr7:6202600-6218000	Weak transcription	Psoas Muscle	Psoas
38	chr7:6202600-6228200	Weak transcription	Dnd41	blood
39	chr7:6203200-6207800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr7:6203400-6207600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:6203800-6209200	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr7:6203800-6218000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:6204000-6212400	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:6204200-6208200	Genic enhancers	Fetal Stomach	stomach
45	chr7:6204200-6209400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:6204200-6211200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:6204200-6213000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:6204400-6208400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:6204400-6211200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:6204400-6211600	Weak transcription	NH-A	brain

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