Variant report

Variant	rs10244591
Chromosome Location	chr7:6771098-6771099
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6746161..6747688-chr7:6768318..6771249,2	MCF-7	breast:
2	chr7:6768428..6771621-chr7:6773707..6775724,3	MCF-7	breast:
3	chr7:6744871..6747873-chr7:6767656..6771321,4	K562	blood:

Variant related genes	Relation type
ENSG00000164631	Chromatin interaction
ENSG00000187953	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10263771	0.81[ASN][1000 genomes]
rs10272921	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10279319	0.81[ASN][1000 genomes]
rs10441131	0.85[ASN][1000 genomes]
rs10951994	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12113879	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12534591	0.88[ASN][1000 genomes]
rs12535850	0.84[ASN][1000 genomes]
rs12536067	0.85[ASN][1000 genomes]
rs12536107	0.88[ASN][1000 genomes]
rs12537448	1.00[JPT][hapmap]
rs12537487	0.84[ASN][1000 genomes]
rs12539942	0.88[ASN][1000 genomes]
rs12540797	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12673800	0.92[JPT][hapmap]
rs13224907	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13236698	0.81[AMR][1000 genomes]
rs13247186	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2462654	0.84[ASN][1000 genomes]
rs28494902	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28649084	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2881352	0.92[JPT][hapmap]
rs34857592	0.89[ASN][1000 genomes]
rs34899283	0.93[ASN][1000 genomes]
rs34947632	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs35121012	0.94[ASN][1000 genomes]
rs35291651	0.92[ASN][1000 genomes]
rs35644498	0.94[ASN][1000 genomes]
rs35768299	0.94[ASN][1000 genomes]
rs3757481	0.93[JPT][hapmap]
rs3801033	0.92[JPT][hapmap]
rs3801038	1.00[JPT][hapmap]
rs3801039	0.92[JPT][hapmap]
rs4724766	0.85[ASN][1000 genomes]
rs62439727	0.92[ASN][1000 genomes]
rs62439728	0.84[ASN][1000 genomes]
rs62439731	0.85[ASN][1000 genomes]
rs62439737	0.86[ASN][1000 genomes]
rs62439738	0.86[ASN][1000 genomes]
rs62439743	0.87[ASN][1000 genomes]
rs6463576	0.92[JPT][hapmap]
rs6463579	0.85[ASN][1000 genomes]
rs6463580	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6944332	1.00[JPT][hapmap]
rs6953825	1.00[JPT][hapmap]
rs6954172	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6964276	0.81[ASN][1000 genomes]
rs6971621	0.89[JPT][hapmap]
rs6974325	0.92[JPT][hapmap]
rs6979127	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7779296	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7784521	0.93[ASN][1000 genomes]
rs7789640	0.91[ASN][1000 genomes]
rs7792579	0.87[ASN][1000 genomes]
rs7792858	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7796846	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7798471	0.92[JPT][hapmap]
rs7804259	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7804542	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9639027	0.92[JPT][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	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv966754	chr7:6750289-6838266	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv887442	chr7:6753286-6820508	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv887443	chr7:6753286-6832265	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887444	chr7:6753286-6855510	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
11	nsv887445	chr7:6758018-6843722	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv887447	chr7:6764583-6843722	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887448	chr7:6764583-6855510	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6769200-6771200	Active TSS	A549	lung
2	chr7:6769400-6771400	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr7:6770000-6771200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:6770000-6783400	Weak transcription	Aorta	Aorta
5	chr7:6770200-6771200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:6770200-6771200	Active TSS	HepG2	liver
7	chr7:6770200-6771400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:6770200-6772000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:6770200-6775600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:6770200-6779000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:6770200-6779200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:6770200-6782600	Weak transcription	Small Intestine	intestine
13	chr7:6770400-6771200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:6770400-6771200	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:6770400-6771200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:6770400-6771200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr7:6770400-6771200	Enhancers	Brain Anterior Caudate	brain
18	chr7:6770400-6771200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:6770400-6771200	Enhancers	Colonic Mucosa	Colon
20	chr7:6770400-6771200	Enhancers	Fetal Heart	heart
21	chr7:6770400-6771200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:6770400-6771200	Enhancers	Spleen	Spleen
23	chr7:6770400-6771200	Enhancers	NHEK	skin
24	chr7:6770400-6771400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:6770400-6771400	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:6770400-6771400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr7:6770400-6771400	Enhancers	Fetal Muscle Leg	muscle
28	chr7:6770400-6771400	Enhancers	Placenta	Placenta
29	chr7:6770400-6772000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:6770400-6772400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:6770400-6772400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:6770400-6772400	Weak transcription	Ovary	ovary
33	chr7:6770400-6776800	Weak transcription	Pancreas	Pancrea
34	chr7:6770400-6777000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:6770400-6778400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:6770400-6784800	Weak transcription	NHLF	lung
37	chr7:6770600-6771200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr7:6770600-6771200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:6770600-6771200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr7:6770600-6771400	Enhancers	Fetal Lung	lung
41	chr7:6770600-6771400	Enhancers	Lung	lung
42	chr7:6770600-6772000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:6770800-6771200	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr7:6770800-6771200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr7:6770800-6771200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:6770800-6771200	Active TSS	Right Atrium	heart
47	chr7:6770800-6771200	Flanking Active TSS	GM12878-XiMat	blood
48	chr7:6770800-6771400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr7:6770800-6772000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:6770800-6772000	Weak transcription	Rectal Mucosa Donor 31	rectum

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