Variant report

Variant	rs7976384
Chromosome Location	chr12:117434145-117434146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10507276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850736	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11608609	0.96[EUR][1000 genomes]
rs11608681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11609741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11610984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11615600	0.82[JPT][hapmap]
rs12819203	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17501253	0.86[CEU][hapmap];0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2062529	0.85[JPT][hapmap]
rs3741465	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6490100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7301877	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7978495	0.97[EUR][1000 genomes];0.80[ASN][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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:117387800-117463600	Weak transcription	HMEC	breast
3	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
4	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
5	chr12:117404600-117442400	Weak transcription	HepG2	liver
6	chr12:117405600-117442400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:117408200-117442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
9	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:117412200-117440000	Weak transcription	Esophagus	oesophagus
11	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
12	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
13	chr12:117418400-117441800	Weak transcription	K562	blood
14	chr12:117418400-117442400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:117418400-117444600	Weak transcription	HUVEC	blood vessel
16	chr12:117421200-117436400	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:117421200-117438000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:117421200-117438000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:117421200-117438200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:117421600-117438000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:117425400-117441800	Weak transcription	Gastric	stomach
22	chr12:117425800-117439400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:117426600-117439600	Weak transcription	Fetal Brain Male	brain
25	chr12:117426800-117445600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:117427000-117439800	Weak transcription	NHLF	lung
27	chr12:117427200-117438000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:117427200-117442400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:117427200-117442800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:117427800-117443400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:117428000-117435400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:117428000-117436800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:117428000-117442400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:117428000-117442400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:117428000-117442400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:117428200-117435000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:117428200-117439800	Weak transcription	Fetal Brain Female	brain
38	chr12:117428200-117440000	Weak transcription	Pancreas	Pancrea
39	chr12:117428200-117440400	Weak transcription	Fetal Lung	lung
40	chr12:117428200-117442200	Weak transcription	A549	lung
41	chr12:117428200-117442400	Weak transcription	Fetal Kidney	kidney
42	chr12:117428200-117442400	Weak transcription	Fetal Thymus	thymus
43	chr12:117428200-117447600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:117428600-117442400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:117428600-117442800	Weak transcription	NHDF-Ad	bronchial
46	chr12:117428800-117436400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:117428800-117442400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:117429400-117436800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:117429400-117437200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:117429400-117438200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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