Variant report

Variant	rs12072331
Chromosome Location	chr1:150664755-150664756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150594892..150596447-chr1:150663377..150666210,2	K562	blood:
2	chr1:150662766..150666731-chr1:150669381..150672304,3	MCF-7	breast:
3	chr1:150661949..150665249-chr1:150666928..150670811,7	K562	blood:

Variant related genes	Relation type
ENSG00000143457	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10305737	1.00[TSI][hapmap]
rs10305742	1.00[TSI][hapmap]
rs11204670	1.00[CEU][hapmap]
rs12124031	1.00[GIH][hapmap]
rs2229175	1.00[GIH][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	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1014638	chr1:150647987-150679033	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv437158	chr1:150652202-150683512	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150603400-150668200	Weak transcription	Brain Germinal Matrix	brain
2	chr1:150608600-150668600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:150621200-150664800	Weak transcription	Fetal Brain Female	brain
4	chr1:150621200-150665000	Weak transcription	Fetal Kidney	kidney
5	chr1:150621200-150669400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:150621800-150668600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:150622000-150668600	Weak transcription	HSMMtube	muscle
8	chr1:150622000-150669400	Weak transcription	Esophagus	oesophagus
9	chr1:150623200-150668600	Weak transcription	Brain Angular Gyrus	brain
10	chr1:150630000-150664800	Weak transcription	Thymus	Thymus
11	chr1:150631800-150665400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:150632400-150669000	Weak transcription	Aorta	Aorta
13	chr1:150632600-150665000	Weak transcription	Colonic Mucosa	Colon
14	chr1:150632600-150668200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:150633000-150668600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:150633200-150669200	Weak transcription	Left Ventricle	heart
17	chr1:150633400-150665000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:150634600-150664800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:150636400-150666600	Weak transcription	Brain Anterior Caudate	brain
20	chr1:150640400-150667600	Weak transcription	Pancreas	Pancrea
21	chr1:150641200-150669400	Weak transcription	Gastric	stomach
22	chr1:150643400-150666800	Strong transcription	Fetal Intestine Small	intestine
23	chr1:150648800-150664800	Weak transcription	Lung	lung
24	chr1:150648800-150669400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:150648800-150669400	Weak transcription	Spleen	Spleen
26	chr1:150655000-150665800	Weak transcription	HMEC	breast
27	chr1:150655000-150666000	Weak transcription	Ovary	ovary
28	chr1:150656600-150667600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:150656600-150669400	Weak transcription	Small Intestine	intestine
30	chr1:150656800-150665800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:150657000-150667000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:150657000-150667800	Weak transcription	HepG2	liver
33	chr1:150657200-150664800	Weak transcription	GM12878-XiMat	blood
34	chr1:150657200-150668200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:150657800-150668200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:150658000-150664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:150658200-150667400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:150658400-150667600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:150658400-150667800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:150658400-150668200	Weak transcription	NHLF	lung
41	chr1:150658600-150667400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:150658600-150667400	Strong transcription	Fetal Intestine Large	intestine
43	chr1:150658600-150667600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:150658600-150667800	Strong transcription	Fetal Thymus	thymus
45	chr1:150658800-150667600	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:150659000-150664800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:150659200-150668600	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:150659800-150667600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:150659800-150668600	Weak transcription	Fetal Heart	heart
50	chr1:150660000-150667400	Strong transcription	Monocytes-CD14+_RO01746	blood

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