Variant report

Variant	rs12096946
Chromosome Location	chr1:161271382-161271383
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161269370..161272593-chr1:161272649..161275995,5	K562	blood:

Variant related genes	Relation type
ENSG00000158887	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12068890	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv525443	chr1:161263380-161274311	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv517826	chr1:161263380-161277601	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161250400-161274200	Weak transcription	Fetal Stomach	stomach
2	chr1:161252400-161274800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:161255200-161274800	Weak transcription	Lung	lung
4	chr1:161255600-161274600	Weak transcription	Adipose Nuclei	Adipose
5	chr1:161256400-161272800	Weak transcription	Primary T cells from cord blood	blood
6	chr1:161261000-161272800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:161261400-161273200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:161261400-161273800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:161261600-161274200	Weak transcription	Fetal Intestine Large	intestine
10	chr1:161263200-161274600	Weak transcription	Placenta	Placenta
11	chr1:161265800-161273600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:161266200-161273800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:161267000-161273200	Weak transcription	Primary B cells from cord blood	blood
14	chr1:161267600-161273800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:161268200-161272600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:161268200-161273800	Weak transcription	GM12878-XiMat	blood
17	chr1:161268400-161272000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:161268400-161272800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:161269000-161272800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:161269000-161273200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:161269400-161272600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:161269400-161273200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:161269400-161273400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:161269400-161273800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:161269400-161274000	Weak transcription	K562	blood
26	chr1:161269400-161274200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:161269400-161274200	Weak transcription	Brain Angular Gyrus	brain
28	chr1:161269400-161274400	Weak transcription	Small Intestine	intestine
29	chr1:161269600-161272000	Weak transcription	HUVEC	blood vessel
30	chr1:161269600-161273200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:161269600-161273200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:161269800-161272800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:161269800-161273000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:161269800-161274800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:161269800-161274800	Weak transcription	Pancreas	Pancrea
36	chr1:161270000-161275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:161270600-161273400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:161270600-161273800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:161270800-161273800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:161270800-161274200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:161270800-161274200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:161270800-161274200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:161270800-161275000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:161271000-161274800	Weak transcription	HMEC	breast
45	chr1:161271200-161272600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:161271200-161273400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:161271200-161274800	Weak transcription	Fetal Heart	heart

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