Variant report

Variant	rs12671513
Chromosome Location	chr7:121761308-121761309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121755276..121758622-chr7:121759872..121762000,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10230768	1.00[EUR][1000 genomes]
rs10246429	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10253893	0.84[ASN][1000 genomes]
rs1147488	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1147499	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1147500	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1147503	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1196500	1.00[CHB][hapmap]
rs1206384	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12666197	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12669983	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674287	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1916872	0.82[CHB][hapmap]
rs2215359	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2268074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs279691	0.86[ASN][1000 genomes]
rs284344	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284348	1.00[EUR][1000 genomes]
rs284367	1.00[EUR][1000 genomes]
rs284378	1.00[EUR][1000 genomes]
rs284388	1.00[EUR][1000 genomes]
rs28579799	0.84[ASN][1000 genomes]
rs28730482	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs600605	0.86[YRI][hapmap]
rs659022	1.00[EUR][1000 genomes]
rs672483	1.00[EUR][1000 genomes]
rs6947948	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73426035	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73440967	0.84[ASN][1000 genomes]
rs940422	1.00[CHB][hapmap];0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv608335	chr7:121749963-121779485	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523632	chr7:121754695-121802068	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:121716000-121772000	Weak transcription	Osteobl	bone
3	chr7:121716000-121775600	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:121726000-121774400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:121726000-121776000	Weak transcription	Fetal Stomach	stomach
6	chr7:121731800-121770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:121732000-121773600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr7:121743000-121770200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:121743800-121776200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:121744600-121783200	Weak transcription	Lung	lung
11	chr7:121744800-121775200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:121744800-121776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:121745600-121774000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:121747200-121762400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:121747800-121775800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:121747800-121776200	Weak transcription	Fetal Brain Male	brain
17	chr7:121748200-121763600	Weak transcription	HMEC	breast
18	chr7:121750000-121776600	Weak transcription	Psoas Muscle	Psoas
19	chr7:121750200-121773600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:121750200-121775400	Weak transcription	Gastric	stomach
21	chr7:121750400-121775800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:121750800-121769000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:121750800-121775400	Weak transcription	Small Intestine	intestine
24	chr7:121751400-121761400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:121753800-121768000	Weak transcription	HSMM	muscle
26	chr7:121753800-121776200	Weak transcription	NH-A	brain
27	chr7:121755200-121768400	Weak transcription	HepG2	liver
28	chr7:121755200-121772000	Weak transcription	NHEK	skin
29	chr7:121755200-121776200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:121755200-121776800	Weak transcription	Aorta	Aorta
31	chr7:121755400-121769600	Weak transcription	Fetal Intestine Small	intestine
32	chr7:121756400-121772000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:121756600-121763600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:121756600-121764800	Weak transcription	Fetal Brain Female	brain
35	chr7:121756600-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:121756600-121776600	Weak transcription	Brain Angular Gyrus	brain
37	chr7:121756600-121783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:121756600-121783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:121756800-121761600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:121756800-121763000	Weak transcription	Ovary	ovary
41	chr7:121756800-121775400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:121756800-121776200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:121756800-121776200	Weak transcription	HUVEC	blood vessel
44	chr7:121756800-121776600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:121756800-121776800	Weak transcription	Brain Substantia Nigra	brain
46	chr7:121756800-121776800	Weak transcription	Right Ventricle	heart
47	chr7:121756800-121783000	Weak transcription	Fetal Intestine Large	intestine
48	chr7:121757000-121761400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:121757000-121762000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr7:121757000-121771800	Weak transcription	NHDF-Ad	bronchial

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