Variant report

Variant	rs13312846
Chromosome Location	chr8:90997521-90997522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:90993272-90997595	GM12878	blood:	n/a	n/a
2	CTCF	chr8:90997420-90997570	HCM	heart:	n/a	n/a
3	MXI1	chr8:90995560-90997553	IMR90	lung:	n/a	n/a
4	SMC3	chr8:90995741-90997774	SK-N-SH	brain:	n/a	chr8:90996521-90996528 chr8:90996955-90996969 chr8:90996955-90996965 chr8:90996961-90996969 chr8:90996521-90996535 chr8:90996525-90996535
5	CTCF	chr8:90997380-90997530	HRPEpiC	eye:	n/a	n/a
6	HCFC1	chr8:90995649-90997726	Hela-S3	cervix:	n/a	n/a
7	CHD1	chr8:90997431-90997561	GM12878	blood:	n/a	n/a
8	MXI1	chr8:90993378-90997577	SK-N-SH	brain:	n/a	n/a
9	SIN3AK20	chr8:90995586-90997763	MCF-7	breast:	n/a	n/a
10	CTCF	chr8:90997480-90997630	HRE	kidney:	n/a	n/a
11	CTCF	chr8:90995075-90997592	A549	lung:	n/a	chr8:90996955-90996968 chr8:90996956-90996966 chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996954-90996970 chr8:90996418-90996431 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536 chr8:90996959-90996968 chr8:90996948-90996969 chr8:90996953-90996971 chr8:90996955-90996968
12	ZNF274	chr8:90996619-90997597	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90995516..90998828-chr8:91010778..91014105,5	K562	blood:
2	chr8:90788699..90792573-chr8:90996217..90998925,4	MCF-7	breast:
3	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
4	chr8:90995093..90997814-chr8:91010770..91014611,5	MCF-7	breast:
5	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
6	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:
7	chr8:90735826..90740064-chr8:90995306..90998250,3	MCF-7	breast:
8	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
9	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
10	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
11	chr8:90995523..90999017-chr8:91656346..91659175,4	K562	blood:
12	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:
13	chr8:90790967..90797055-chr8:90994383..90998113,5	MCF-7	breast:
14	chr8:90993651..90998172-chr8:91012740..91014695,4	MCF-7	breast:
15	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
16	chr8:90996289..90998136-chr8:91010778..91015164,5	K562	blood:

Variant related genes	Relation type
NBN	TF binding region
ENSG00000207359	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10091400	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10098170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10099102	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1024156	1.00[CHB][hapmap]
rs10282890	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504886	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1076559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986818	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11989543	1.00[EUR][1000 genomes]
rs11989795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992856	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992886	1.00[CHB][hapmap]
rs11995294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114835	1.00[ASN][1000 genomes]
rs13312839	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13312973	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13312981	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13312987	1.00[CHB][hapmap]
rs16901426	1.00[CHB][hapmap]
rs16901712	1.00[CHB][hapmap]
rs1805785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1805805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.83[MKK][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376519	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28654557	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58332188	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6470477	1.00[CHB][hapmap]
rs6470521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985667	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986890	1.00[CHB][hapmap]
rs6992671	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998735	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7000851	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7001024	1.00[CHB][hapmap]
rs7004411	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7004759	1.00[CHB][hapmap]
rs7005583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013140	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7017304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72550706	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812899	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821822	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7823833	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828593	1.00[CHB][hapmap]
rs7829683	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7831876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834469	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983925	1.00[CHB][hapmap];1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90993800-90997600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:90994600-90997600	Active TSS	Brain Substantia Nigra	brain
3	chr8:90996800-90997600	Enhancers	Fetal Lung	lung
4	chr8:90997000-90997600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:90997000-90997600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:90997000-90997600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:90997000-90997600	Enhancers	Rectal Smooth Muscle	rectum
8	chr8:90997000-90997600	Flanking Active TSS	Dnd41	blood
9	chr8:90997000-90997800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:90997000-90999400	Weak transcription	HMEC	breast
11	chr8:90997000-91004600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:90997200-90997600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:90997200-90997600	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:90997200-90997600	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:90997200-90997600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:90997200-90997600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:90997200-90997600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:90997200-90997600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr8:90997200-90997600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:90997200-90997600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:90997200-90997600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:90997200-90997600	Enhancers	Liver	Liver
23	chr8:90997200-90997600	Enhancers	Brain Anterior Caudate	brain
24	chr8:90997200-90997600	Enhancers	Brain Cingulate Gyrus	brain
25	chr8:90997200-90997600	Enhancers	Placenta	Placenta
26	chr8:90997200-90997600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:90997200-90997600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr8:90997200-90997600	Enhancers	NHEK	skin
29	chr8:90997200-90997800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr8:90997200-90997800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:90997200-90999000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:90997200-90999600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:90997200-91005600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:90997400-90997600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:90997400-90997600	Enhancers	Primary B cells from cord blood	blood
36	chr8:90997400-90997600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:90997400-90997600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr8:90997400-90997600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:90997400-90997600	Flanking Active TSS	Spleen	Spleen
40	chr8:90997400-90997600	Enhancers	A549	lung
41	chr8:90997400-90997600	Enhancers	GM12878-XiMat	blood
42	chr8:90997400-90997600	Enhancers	Hela-S3	cervix
43	chr8:90997400-90997600	Enhancers	HepG2	liver
44	chr8:90997400-90997600	Enhancers	HSMMtube	muscle
45	chr8:90997400-90997600	Enhancers	K562	blood
46	chr8:90997400-90999000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:90997400-90999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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