Variant report

Variant	rs7487117
Chromosome Location	chr12:122072017-122072018
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	chr12:122070584..122072114-chr12:122100684..122102629,2	K562	blood:
2	chr12:122068858..122070627-chr12:122070964..122073158,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10770183	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840648	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840650	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11043296	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11043306	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11043308	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11043316	0.84[EUR][1000 genomes]
rs11614109	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12304179	0.85[ASN][1000 genomes]
rs12305333	0.86[AMR][1000 genomes]
rs12315280	0.85[ASN][1000 genomes]
rs12322922	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1983269	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3741595	0.87[AMR][1000 genomes]
rs4760125	0.87[AMR][1000 genomes]
rs7398511	0.87[AMR][1000 genomes]
rs7484839	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7485243	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122065400-122080800	Weak transcription	Aorta	Aorta
2	chr12:122066000-122078800	Weak transcription	Fetal Brain Female	brain
3	chr12:122066200-122090400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:122066400-122096600	Weak transcription	Brain Anterior Caudate	brain
5	chr12:122067800-122096600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:122068000-122072600	Weak transcription	HSMM	muscle
7	chr12:122068200-122078800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:122069400-122074200	Weak transcription	Dnd41	blood
9	chr12:122069400-122082200	Weak transcription	NHDF-Ad	bronchial
10	chr12:122069400-122090800	Weak transcription	Hela-S3	cervix
11	chr12:122070400-122072600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:122070600-122074600	Weak transcription	Thymus	Thymus
13	chr12:122070800-122081000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:122071000-122074000	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:122071000-122074800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:122071000-122075000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:122071200-122072600	Weak transcription	Esophagus	oesophagus
18	chr12:122071200-122075200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:122071200-122075200	Weak transcription	A549	lung
20	chr12:122071200-122078000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:122071200-122078800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:122071200-122078800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:122071200-122078800	Weak transcription	Ovary	ovary
24	chr12:122071200-122078800	Weak transcription	NHLF	lung
25	chr12:122071200-122079200	Weak transcription	HUVEC	blood vessel
26	chr12:122071200-122087200	Weak transcription	Left Ventricle	heart
27	chr12:122071400-122072400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:122071400-122072600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:122071400-122072600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:122071400-122072600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:122071400-122072600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:122071400-122072600	Weak transcription	Primary T cells from cord blood	blood
33	chr12:122071400-122072600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:122071400-122072600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:122071400-122072600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:122071400-122072600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:122071400-122072600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:122071400-122072600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:122071400-122072600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:122071400-122072600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:122071400-122072600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:122071400-122072600	Weak transcription	Fetal Heart	heart
43	chr12:122071400-122072600	Weak transcription	Fetal Intestine Small	intestine
44	chr12:122071400-122072600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:122071400-122072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:122071400-122072600	Weak transcription	Spleen	Spleen
47	chr12:122071400-122072600	Weak transcription	GM12878-XiMat	blood
48	chr12:122071400-122072600	Weak transcription	HSMMtube	muscle
49	chr12:122071400-122072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:122071400-122072800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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