Variant report

Variant	rs12531871
Chromosome Location	chr7:150922613-150922614
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	chr7:150755192..150758087-chr7:150922401..150925767,3	K562	blood:
2	chr7:150922541..150925891-chr7:150969834..150974111,4	K562	blood:

Variant related genes	Relation type
ENSG00000164889	Chromatin interaction
ENSG00000082014	Chromatin interaction
ENSG00000164885	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1065071	0.81[ASN][1000 genomes]
rs10952299	1.00[CHB][hapmap]
rs11770520	1.00[CHB][hapmap]
rs12113924	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532489	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536244	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13227935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239059	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239247	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563636	0.81[ASN][1000 genomes]
rs219235	1.00[JPT][hapmap]
rs34129956	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34163999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34770061	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34821030	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35041510	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35093688	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35292078	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35302282	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35746260	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35833042	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3748098	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800794	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432519	1.00[CHB][hapmap]
rs55968735	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66608097	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67128841	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967282	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7784344	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[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	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150908000-150922800	Strong transcription	Brain Hippocampus Middle	brain
2	chr7:150908400-150923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:150908800-150922800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:150908800-150923000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:150908800-150923000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr7:150909000-150923000	Strong transcription	Fetal Muscle Leg	muscle
7	chr7:150909200-150922800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:150909200-150922800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:150909200-150922800	Strong transcription	Fetal Stomach	stomach
10	chr7:150909200-150923000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:150909400-150922800	Strong transcription	Brain Anterior Caudate	brain
12	chr7:150909400-150923000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:150909600-150922800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:150909600-150922800	Strong transcription	NHLF	lung
15	chr7:150910000-150922800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr7:150910000-150922800	Strong transcription	Primary hematopoietic stem cells	blood
17	chr7:150910000-150922800	Weak transcription	Fetal Heart	heart
18	chr7:150910400-150922800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:150912200-150923200	Weak transcription	Stomach Mucosa	stomach
20	chr7:150914200-150922800	Strong transcription	Colonic Mucosa	Colon
21	chr7:150919200-150922800	Weak transcription	Psoas Muscle	Psoas
22	chr7:150921800-150922800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:150921800-150923000	Genic enhancers	Dnd41	blood
24	chr7:150921800-150923000	Genic enhancers	HSMM	muscle
25	chr7:150922000-150922800	Weak transcription	Small Intestine	intestine
26	chr7:150922000-150923000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:150922000-150923000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:150922000-150923000	Weak transcription	Primary B cells from cord blood	blood
29	chr7:150922200-150922800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:150922200-150922800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:150922200-150922800	Weak transcription	Fetal Lung	lung
32	chr7:150922200-150923000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:150922200-150923000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:150922200-150923000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:150922200-150923000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:150922200-150923000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:150922200-150923000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:150922200-150923000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:150922200-150923000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr7:150922200-150923000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:150922200-150923000	Weak transcription	Brain Substantia Nigra	brain
42	chr7:150922200-150923000	Weak transcription	Esophagus	oesophagus
43	chr7:150922200-150923000	Weak transcription	Fetal Intestine Large	intestine
44	chr7:150922200-150923000	Weak transcription	Left Ventricle	heart
45	chr7:150922200-150923000	Weak transcription	Ovary	ovary
46	chr7:150922200-150923000	Weak transcription	Pancreas	Pancrea
47	chr7:150922200-150923000	Weak transcription	Thymus	Thymus
48	chr7:150922200-150923000	Weak transcription	NH-A	brain
49	chr7:150922200-150923000	Weak transcription	NHDF-Ad	bronchial
50	chr7:150922200-150923200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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