Variant report

Variant	rs6474918
Chromosome Location	chr9:15430688-15430689
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:15422069..15423659-chr9:15430578..15433740,3	K562	blood:
2	chr9:15420595..15424773-chr9:15424796..15433036,11	MCF-7	breast:
3	chr9:15429263..15431513-chr9:15449169..15450709,2	K562	blood:
4	chr9:15420090..15425077-chr9:15425243..15430966,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164975	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10081655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10115540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10117968	0.94[CHB][hapmap]
rs1033056	0.81[CHB][hapmap]
rs10481556	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10511611	0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs10733292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10738392	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10738393	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10738395	0.81[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10738397	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10756663	0.88[EUR][1000 genomes]
rs10756664	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10756665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10756666	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10756667	0.91[EUR][1000 genomes]
rs10756668	0.84[EUR][1000 genomes]
rs10756669	0.91[EUR][1000 genomes]
rs1123038	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12093	0.94[JPT][hapmap];0.89[YRI][hapmap]
rs13248	0.94[ASW][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs1397214	0.93[CHB][hapmap];0.89[JPT][hapmap]
rs1397215	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap]
rs16933311	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs16933316	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs1976599	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];0.97[ASN][1000 genomes]
rs1983207	0.83[EUR][1000 genomes]
rs2136710	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2175258	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2175259	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2382529	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2665504	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs2737829	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs2737831	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2737835	1.00[CEU][hapmap];0.80[JPT][hapmap];0.82[EUR][1000 genomes]
rs2737842	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4741498	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4741500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4741501	1.00[JPT][hapmap]
rs4741503	0.91[EUR][1000 genomes]
rs4741504	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs4741505	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4741506	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs4741507	0.94[JPT][hapmap]
rs4741508	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs60046377	0.82[AFR][1000 genomes]
rs6474915	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs6474916	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs6474923	0.88[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes]
rs7021042	0.94[JPT][hapmap]
rs7023290	0.93[EUR][1000 genomes]
rs7026910	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7026970	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes]
rs7029985	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7034447	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7040353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7042165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7046713	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs7470323	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs907075	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs907076	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9650682	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9650683	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517975	chr9:15286446-15534070	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1030287	chr9:15332709-15458001	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv892626	chr9:15389610-15694690	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv892627	chr9:15397969-15909450	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv831520	chr9:15404866-15444447	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	nsv892628	chr9:15420805-15528290	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15423600-15434400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:15423600-15439000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:15424000-15431000	Weak transcription	Psoas Muscle	Psoas
4	chr9:15424000-15443400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:15424000-15443600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:15425000-15431800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr9:15425000-15437000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:15425400-15433600	Weak transcription	Fetal Kidney	kidney
9	chr9:15425400-15439000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:15425800-15431400	Strong transcription	HUVEC	blood vessel
11	chr9:15425800-15433800	Weak transcription	HSMMtube	muscle
12	chr9:15425800-15434000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr9:15426200-15441800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:15426400-15430800	Weak transcription	Liver	Liver
15	chr9:15426400-15431000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:15426400-15431000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:15426400-15431000	Weak transcription	Left Ventricle	heart
18	chr9:15426400-15431000	Weak transcription	Lung	lung
19	chr9:15426400-15431000	Weak transcription	Pancreas	Pancrea
20	chr9:15426400-15433000	Weak transcription	NHLF	lung
21	chr9:15426400-15433600	Weak transcription	Primary T cells from cord blood	blood
22	chr9:15426400-15433600	Weak transcription	Thymus	Thymus
23	chr9:15426400-15434000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:15426400-15435400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:15426400-15436000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:15426400-15439000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:15426400-15439800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:15426400-15441800	Weak transcription	Spleen	Spleen
29	chr9:15426400-15442800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr9:15426400-15443600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:15426400-15443600	Weak transcription	Gastric	stomach
32	chr9:15426400-15468200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:15426600-15430800	Weak transcription	Adipose Nuclei	Adipose
34	chr9:15426600-15430800	Weak transcription	Brain Angular Gyrus	brain
35	chr9:15426600-15430800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr9:15426600-15430800	Weak transcription	Brain Hippocampus Middle	brain
37	chr9:15426600-15430800	Weak transcription	Brain Substantia Nigra	brain
38	chr9:15426600-15430800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr9:15426600-15431000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr9:15426600-15431000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:15426600-15433600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr9:15426600-15433600	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:15426600-15433600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr9:15426600-15434000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:15426600-15434000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr9:15426600-15442400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr9:15426600-15443400	Weak transcription	Fetal Heart	heart
48	chr9:15426800-15431000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:15426800-15431200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:15426800-15433000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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