Variant report

Variant	rs1640700
Chromosome Location	chr7:11017278-11017279
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:10978384..10980499-chr7:11016151..11018160,2	MCF-7	breast:
2	chr7:11016030..11019369-chr7:11044262..11046742,3	K562	blood:
3	chr7:10975906..10982429-chr7:11007978..11018673,26	K562	blood:
4	chr7:11011659..11015162-chr7:11015338..11021925,15	MCF-7	breast:
5	chr7:10472835..10475616-chr7:11015064..11018005,2	K562	blood:
6	chr7:10978101..10982429-chr7:11011509..11017731,20	K562	blood:

Variant related genes	Relation type
ENSG00000106443	Chromatin interaction
ENSG00000189043	Chromatin interaction
ENSG00000230370	Chromatin interaction
ENSG00000271185	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10234395	0.91[CHB][hapmap]
rs10236024	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs10251095	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10251185	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10255688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1057436	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1154920	1.00[ASN][1000 genomes]
rs1154922	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11560245	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11762175	1.00[ASN][1000 genomes]
rs11978518	1.00[CHB][hapmap]
rs12112674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12699172	0.92[CHB][hapmap]
rs13227933	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs13238887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13241511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1483201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1483203	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1483204	0.91[ASN][1000 genomes]
rs1483205	0.92[ASN][1000 genomes]
rs1531834	0.91[ASN][1000 genomes]
rs1547945	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1629587	0.95[ASN][1000 genomes]
rs1636753	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1636754	0.96[ASN][1000 genomes]
rs1636755	0.95[ASN][1000 genomes]
rs1636756	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1636757	0.96[ASN][1000 genomes]
rs1640707	0.96[ASN][1000 genomes]
rs1640710	0.97[ASN][1000 genomes]
rs1681281	0.96[ASN][1000 genomes]
rs1681284	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1681298	0.96[ASN][1000 genomes]
rs1681300	0.96[ASN][1000 genomes]
rs1681302	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1681305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1681310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1681312	0.97[ASN][1000 genomes]
rs1833011	0.84[ASN][1000 genomes]
rs190073	0.93[ASN][1000 genomes]
rs2108111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2108114	0.86[ASN][1000 genomes]
rs218968	0.83[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs218975	0.97[ASN][1000 genomes]
rs218980	1.00[ASN][1000 genomes]
rs218981	1.00[ASN][1000 genomes]
rs2190294	0.92[ASN][1000 genomes]
rs2190295	0.92[ASN][1000 genomes]
rs220089	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs220090	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs220092	0.96[ASN][1000 genomes]
rs220093	0.96[ASN][1000 genomes]
rs2214858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2539823	0.97[ASN][1000 genomes]
rs2906543	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2906544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2906545	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2906546	0.84[ASN][1000 genomes]
rs2906547	0.84[ASN][1000 genomes]
rs2906548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2906549	0.82[ASN][1000 genomes]
rs2906550	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2906551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2906552	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2906553	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2906554	0.83[ASN][1000 genomes]
rs2906555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2906556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2906558	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2906559	0.84[ASN][1000 genomes]
rs2906560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2906561	0.84[ASN][1000 genomes]
rs2906562	0.84[ASN][1000 genomes]
rs2906563	0.84[ASN][1000 genomes]
rs2906564	0.84[ASN][1000 genomes]
rs2906565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2906566	0.86[ASN][1000 genomes]
rs2995878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2995879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2995880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2995881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2995884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2995886	0.81[ASN][1000 genomes]
rs2995898	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2995901	0.84[ASN][1000 genomes]
rs2995902	0.84[ASN][1000 genomes]
rs2995903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs35580506	0.85[ASN][1000 genomes]
rs3801437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3801453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3823875	1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs4314555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4342485	0.96[ASN][1000 genomes]
rs4534044	0.84[ASN][1000 genomes]
rs4644135	1.00[CHB][hapmap]
rs4719258	1.00[CHB][hapmap]
rs4719260	0.83[CHB][hapmap]
rs4720938	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6460785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6460789	0.92[CHB][hapmap]
rs6943379	0.96[ASN][1000 genomes]
rs6954805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6957940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6968425	0.86[ASN][1000 genomes]
rs6973228	0.96[ASN][1000 genomes]
rs7781258	0.84[ASN][1000 genomes]
rs7785008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7786922	0.91[CHB][hapmap]
rs7790383	1.00[CHB][hapmap]
rs7790448	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7791995	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7794514	0.83[CHB][hapmap]
rs7798427	0.91[CHB][hapmap]
rs7806840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7809178	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs8180695	0.91[ASN][1000 genomes]
rs922901	0.81[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs9986755	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv2752140	chr7:10817060-11029748	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11014200-11038600	Weak transcription	Small Intestine	intestine
2	chr7:11014400-11017600	Weak transcription	Gastric	stomach
3	chr7:11014400-11022200	Weak transcription	Esophagus	oesophagus
4	chr7:11014400-11022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:11014400-11031800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:11014400-11033200	Weak transcription	Left Ventricle	heart
7	chr7:11014600-11018000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:11014600-11018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:11014600-11018200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:11014600-11018200	Weak transcription	Pancreas	Pancrea
11	chr7:11014600-11018200	Weak transcription	Spleen	Spleen
12	chr7:11014600-11021800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:11014600-11022200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:11014600-11022200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:11014600-11022200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:11014600-11022200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:11014600-11022200	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:11014600-11022200	Weak transcription	Lung	lung
19	chr7:11014600-11032800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:11014600-11035000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:11014600-11035000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:11014600-11035000	Weak transcription	Placenta	Placenta
23	chr7:11014600-11035200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:11014600-11038600	Weak transcription	Psoas Muscle	Psoas
25	chr7:11014600-11045400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:11014600-11092000	Weak transcription	Colonic Mucosa	Colon
27	chr7:11014800-11017400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr7:11014800-11017600	Weak transcription	Brain Angular Gyrus	brain
29	chr7:11014800-11018200	Weak transcription	Ovary	ovary
30	chr7:11014800-11018200	Weak transcription	Right Atrium	heart
31	chr7:11014800-11020400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:11014800-11021800	Weak transcription	NH-A	brain
33	chr7:11014800-11022000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:11014800-11022200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:11014800-11022200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:11014800-11022200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:11014800-11022200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:11014800-11022200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:11014800-11022200	Weak transcription	Adipose Nuclei	Adipose
40	chr7:11014800-11022200	Weak transcription	Brain Anterior Caudate	brain
41	chr7:11014800-11022200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:11014800-11022200	Weak transcription	Fetal Kidney	kidney
43	chr7:11014800-11026400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:11014800-11032200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:11014800-11032600	Weak transcription	Osteobl	bone
46	chr7:11014800-11033000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:11014800-11033000	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:11014800-11033400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:11014800-11034600	Weak transcription	HMEC	breast
50	chr7:11014800-11035000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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