Variant report

Variant	rs1147488
Chromosome Location	chr7:121683346-121683347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10246429	0.88[ASN][1000 genomes]
rs10253893	1.00[ASN][1000 genomes]
rs1147499	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1147500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1147503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1196500	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1206384	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1211982	0.85[EUR][1000 genomes]
rs12666197	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12669983	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12671513	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12674287	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1916872	0.82[CHB][hapmap]
rs2215359	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2268074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs28579799	1.00[ASN][1000 genomes]
rs28730482	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600605	0.92[YRI][hapmap]
rs73426035	0.80[ASN][1000 genomes]
rs73440967	1.00[ASN][1000 genomes]
rs940422	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs940423	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608334	chr7:121670522-121725961	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121634400-121706000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:121651200-121717600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:121655600-121699000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:121663800-121705600	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:121667800-121696200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:121668000-121696800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:121668200-121697000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:121671200-121696800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:121672200-121697200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:121673200-121688000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:121673200-121688600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr7:121674000-121687800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:121675600-121688000	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr7:121677400-121688800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:121678000-121685800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:121678400-121701800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:121679000-121685400	Strong transcription	NHEK	skin
18	chr7:121679400-121692000	Weak transcription	Brain Substantia Nigra	brain
19	chr7:121679800-121686800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:121680200-121689000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:121680400-121683400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:121680800-121688000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:121681000-121691800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:121681000-121693800	Weak transcription	Fetal Brain Male	brain
25	chr7:121681200-121683600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:121682000-121693200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:121682000-121694800	Weak transcription	Brain Angular Gyrus	brain
28	chr7:121682400-121683400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr7:121682400-121716600	Weak transcription	Brain Anterior Caudate	brain
30	chr7:121682600-121685200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:121682800-121687000	Strong transcription	Fetal Brain Female	brain
32	chr7:121683200-121687800	Strong transcription	Brain Germinal Matrix	brain

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