Variant report

Variant	rs1859602
Chromosome Location	chr7:7687749-7687750
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7685666..7688418-chr7:7688824..7691434,2	K562	blood:
2	chr7:7680700..7683473-chr7:7685626..7688056,2	MCF-7	breast:
3	chr7:7676999..7684981-chr7:7684990..7693882,16	K562	blood:

Variant related genes	Relation type
ENSG00000106399	Chromatin interaction
ENSG00000219545	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10234109	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1045580	1.00[CHB][hapmap]
rs10486185	1.00[CHB][hapmap]
rs11761559	1.00[CHB][hapmap]
rs11762695	1.00[CHB][hapmap]
rs11763947	1.00[CHB][hapmap]
rs13234396	1.00[CHB][hapmap]
rs13245945	1.00[CHB][hapmap]
rs1468760	1.00[CHB][hapmap]
rs1468761	1.00[CHB][hapmap]
rs17136437	1.00[CHB][hapmap]
rs17136498	1.00[CHB][hapmap]
rs17169361	1.00[CHB][hapmap]
rs17169495	1.00[CHB][hapmap]
rs17169553	1.00[CHB][hapmap]
rs17169565	1.00[CHB][hapmap]
rs17546242	1.00[CHB][hapmap]
rs1859603	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1859604	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2110554	1.00[CHB][hapmap]
rs28915973	1.00[CHB][hapmap]
rs28916271	1.00[CHB][hapmap]
rs28992773	1.00[CHB][hapmap]
rs3757526	1.00[CHB][hapmap]
rs4720745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4720746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4720747	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6463711	0.86[ASN][1000 genomes]
rs6950845	1.00[CHB][hapmap]
rs6955624	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs6964727	1.00[CHB][hapmap]
rs6967250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6972655	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs6974015	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7791543	1.00[CHB][hapmap]
rs7794467	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7800009	1.00[CHB][hapmap]
rs7810800	1.00[CHB][hapmap]
rs9692373	1.00[CHB][hapmap]
rs9791868	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	84 gene(s)	inside rSNPs	diseases
3	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription 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	40 gene(s)	inside rSNPs	diseases
7	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7681400-7688600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:7681400-7688600	Weak transcription	Ovary	ovary
3	chr7:7681400-7690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:7681600-7692000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:7681600-7703800	Weak transcription	Stomach Mucosa	stomach
6	chr7:7681600-7710200	Weak transcription	Aorta	Aorta
7	chr7:7681800-7692600	Weak transcription	Primary T cells from cord blood	blood
8	chr7:7681800-7696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:7682000-7687800	Weak transcription	Esophagus	oesophagus
10	chr7:7682000-7689400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:7682000-7690200	Weak transcription	Liver	Liver
12	chr7:7682000-7691000	Weak transcription	Fetal Kidney	kidney
13	chr7:7682000-7692600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:7682000-7694600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:7682000-7694600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:7682000-7694600	Weak transcription	Psoas Muscle	Psoas
17	chr7:7682000-7713800	Weak transcription	Left Ventricle	heart
18	chr7:7682200-7711600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:7682400-7691000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:7682600-7689000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:7682600-7689400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:7682600-7689600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:7682800-7689800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:7683600-7690400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:7685200-7689400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:7686000-7689600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:7686000-7691000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:7686400-7688200	Enhancers	HepG2	liver
29	chr7:7686400-7690400	Weak transcription	Fetal Intestine Large	intestine
30	chr7:7686600-7688200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr7:7686600-7689000	Weak transcription	Primary B cells from cord blood	blood
32	chr7:7686600-7689200	Weak transcription	Dnd41	blood
33	chr7:7686600-7690400	Weak transcription	Pancreas	Pancrea
34	chr7:7686600-7691000	Weak transcription	Gastric	stomach
35	chr7:7686600-7701200	Weak transcription	Fetal Stomach	stomach
36	chr7:7687000-7688000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:7687000-7688200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:7687200-7687800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr7:7687200-7687800	Enhancers	Fetal Thymus	thymus
40	chr7:7687400-7687800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:7687400-7688000	Enhancers	Thymus	Thymus
42	chr7:7687600-7688000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr7:7687600-7688400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr7:7687600-7690200	Weak transcription	Fetal Intestine Small	intestine
45	chr7:7687600-7696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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