Variant report

Variant	rs10951988
Chromosome Location	chr7:6632621-6632622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6631417..6634053-chr7:6644555..6647316,2	K562	blood:
2	chr7:6629715..6632730-chr7:6637377..6639993,3	K562	blood:
3	chr7:6632596..6634109-chr7:6637243..6639113,2	MCF-7	breast:
4	chr7:6627001..6634994-chr7:6673643..6681623,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146576	Chromatin interaction
ENSG00000205903	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10235760	0.86[CHB][hapmap];1.00[CHD][hapmap]
rs10239018	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10254630	0.86[CHB][hapmap];0.97[ASN][1000 genomes]
rs10254753	0.98[ASN][1000 genomes]
rs10255168	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273900	0.98[ASN][1000 genomes]
rs10276346	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10277061	0.98[ASN][1000 genomes]
rs10279458	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10282220	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10951987	0.88[EUR][1000 genomes]
rs11559146	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11762346	0.81[GIH][hapmap];0.83[TSI][hapmap]
rs11762851	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11763814	0.88[ASW][hapmap];0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11763918	0.81[ASN][1000 genomes]
rs11770467	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532758	0.85[EUR][1000 genomes]
rs12538002	0.93[CHD][hapmap]
rs12538197	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12669808	0.86[EUR][1000 genomes]
rs12702529	0.83[EUR][1000 genomes]
rs12702530	1.00[ASN][1000 genomes]
rs13229391	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13229523	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13240710	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1880119	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2346263	0.82[CEU][hapmap];0.97[GIH][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28541711	0.84[GIH][hapmap];0.98[ASN][1000 genomes]
rs3088114	0.97[CHD][hapmap]
rs34060186	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34566172	0.98[ASN][1000 genomes]
rs3813513	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4075107	0.82[CEU][hapmap];0.86[CHB][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4272276	0.86[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512303	0.98[ASN][1000 genomes]
rs56717970	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59895610	0.85[EUR][1000 genomes]
rs60108089	0.96[ASN][1000 genomes]
rs60742375	0.96[ASN][1000 genomes]
rs62441317	0.90[ASN][1000 genomes]
rs6952785	0.88[EUR][1000 genomes]
rs6965187	0.96[ASN][1000 genomes]
rs73345000	0.83[EUR][1000 genomes]
rs7357134	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7776724	0.98[ASN][1000 genomes]
rs7790874	0.86[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7790928	0.97[GIH][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7792808	0.86[CEU][hapmap];0.86[CHB][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7793367	0.86[CHB][hapmap];0.98[ASN][1000 genomes]
rs7793685	0.85[EUR][1000 genomes]
rs7800917	0.86[CHB][hapmap];1.00[CHD][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7801415	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804036	0.98[ASN][1000 genomes]
rs9640027	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv508444	chr7:6534110-6700527	Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv887431	chr7:6535517-6690240	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv515978	chr7:6535517-6698905	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	nsv887433	chr7:6557135-6668027	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
18	nsv606001	chr7:6563109-6683454	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
20	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
21	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv824003	chr7:6620920-6721409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv887436	chr7:6626922-6721661	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	esv1797143	chr7:6628177-6705439	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	nsv606003	chr7:6628242-6713985	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10951988	ZDHHC4	cis	Esophagus Mucosa	GTEx
rs10951988	AC079742.4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6630600-6634000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:6630600-6641800	Weak transcription	NHDF-Ad	bronchial
3	chr7:6630800-6633200	Weak transcription	Esophagus	oesophagus
4	chr7:6630800-6633400	Weak transcription	Osteobl	bone
5	chr7:6630800-6633800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:6630800-6633800	Weak transcription	Gastric	stomach
7	chr7:6630800-6634000	Weak transcription	Aorta	Aorta
8	chr7:6630800-6634000	Weak transcription	Psoas Muscle	Psoas
9	chr7:6630800-6634800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:6630800-6636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:6630800-6639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:6630800-6641600	Weak transcription	K562	blood
13	chr7:6631000-6633000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr7:6631000-6633200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:6631000-6633400	Weak transcription	NHEK	skin
16	chr7:6631000-6633800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:6631000-6634000	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr7:6631000-6634600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:6631000-6634600	Weak transcription	HMEC	breast
20	chr7:6631000-6646200	Strong transcription	Brain Anterior Caudate	brain
21	chr7:6631000-6646800	Strong transcription	Fetal Intestine Large	intestine
22	chr7:6631200-6632800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr7:6631200-6634600	Weak transcription	Pancreas	Pancrea
24	chr7:6631200-6635800	Strong transcription	GM12878-XiMat	blood
25	chr7:6631200-6636800	Weak transcription	Fetal Heart	heart
26	chr7:6631200-6642600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:6631200-6644200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:6631200-6644600	Strong transcription	Fetal Lung	lung
29	chr7:6631200-6648200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:6631200-6648400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:6631200-6648400	Strong transcription	Placenta	Placenta
32	chr7:6631200-6648600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:6631200-6649200	Strong transcription	Fetal Muscle Leg	muscle
34	chr7:6631200-6649200	Strong transcription	Fetal Thymus	thymus
35	chr7:6631200-6649400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:6631200-6649400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:6631200-6649400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:6631200-6649400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr7:6631400-6632800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr7:6631400-6633000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr7:6631400-6633600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr7:6631400-6633800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:6631400-6634000	Weak transcription	NH-A	brain
44	chr7:6631400-6635800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:6631400-6638200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:6631400-6640000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:6631400-6640200	Strong transcription	Brain Substantia Nigra	brain
48	chr7:6631400-6641800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:6631400-6641800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr7:6631400-6642400	Strong transcription	Left Ventricle	heart

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