Variant report

Variant	rs7030164
Chromosome Location	chr9:117815613-117815614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117810151..117812770-chr9:117815287..117818009,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10759753	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1330363	0.86[JPT][hapmap]
rs1330364	0.86[JPT][hapmap]
rs13321	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1411456	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1411461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1537017	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1547691	1.00[CEU][hapmap];0.86[JPT][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs1547692	0.86[JPT][hapmap]
rs16932078	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1854707	0.86[JPT][hapmap]
rs1888221	0.81[AMR][1000 genomes]
rs2009023	0.82[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2104772	0.82[JPT][hapmap]
rs2210108	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2297180	0.86[JPT][hapmap]
rs3789870	0.95[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3789872	0.90[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs3789873	0.94[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs4460459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478127	0.86[JPT][hapmap]
rs6478128	0.86[JPT][hapmap]
rs7027148	1.00[ASW][hapmap];0.95[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7032224	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7035322	0.81[TSI][hapmap]
rs7875852	0.86[JPT][hapmap]
rs944223	1.00[CEU][hapmap];0.86[JPT][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs944226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953288	0.86[JPT][hapmap]
rs955450	1.00[ASW][hapmap];0.90[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]

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	nsv831696	chr9:117701582-117874150	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117782400-117848200	Weak transcription	Brain Substantia Nigra	brain
2	chr9:117791600-117833200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:117799200-117819800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:117799400-117817000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:117800800-117825000	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:117800800-117825200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:117801000-117819200	Weak transcription	HMEC	breast
8	chr9:117801800-117820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:117802200-117848200	Weak transcription	Spleen	Spleen
10	chr9:117803400-117820000	Weak transcription	Aorta	Aorta
11	chr9:117803400-117820600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:117803600-117820200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:117803600-117825400	Weak transcription	Fetal Kidney	kidney
14	chr9:117805800-117818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:117806800-117816800	Strong transcription	Osteobl	bone
16	chr9:117807200-117816800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:117807400-117819600	Strong transcription	NHDF-Ad	bronchial
18	chr9:117807400-117819800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:117807600-117817400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:117809000-117825400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:117809200-117821000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:117810000-117817600	Weak transcription	Fetal Stomach	stomach
23	chr9:117810200-117817600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:117810600-117825000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:117811000-117816600	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:117811800-117816800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr9:117812800-117819200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:117812800-117825800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:117812800-117830600	Weak transcription	Fetal Lung	lung
30	chr9:117813000-117817000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr9:117813000-117817600	Weak transcription	NHEK	skin
32	chr9:117813200-117825000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr9:117813600-117819200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:117813800-117816800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:117814400-117818000	Strong transcription	NHLF	lung
36	chr9:117815200-117816000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:117815200-117817800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:117815200-117821000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr9:117815200-117825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:117815400-117816600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:117815400-117816600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:117815400-117816600	Weak transcription	NH-A	brain
43	chr9:117815400-117859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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