Variant report

Variant	rs963912
Chromosome Location	chr1:92013998-92013999
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	chr1:92011701..92014706-chr1:92015449..92018915,4	K562	blood:
2	chr1:92006707..92009615-chr1:92012978..92014986,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1046622	1.00[ASN][1000 genomes]
rs13447460	1.00[ASN][1000 genomes]
rs13447465	1.00[ASN][1000 genomes]
rs13447471	1.00[ASN][1000 genomes]
rs13447472	1.00[ASN][1000 genomes]
rs13447510	1.00[ASN][1000 genomes]
rs963911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92003600-92018000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:92006600-92016400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:92010600-92015400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr1:92010600-92017000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:92010800-92014400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:92011400-92018200	Weak transcription	Right Atrium	heart
7	chr1:92011800-92014200	Weak transcription	Fetal Lung	lung
8	chr1:92012000-92027400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:92012400-92014400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:92012400-92014800	Enhancers	Fetal Heart	heart
11	chr1:92012800-92014200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr1:92012800-92018800	Weak transcription	Placenta	Placenta
13	chr1:92013000-92015200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:92013000-92015600	Enhancers	Dnd41	blood
15	chr1:92013400-92014200	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:92013600-92014000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:92013600-92014400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:92013600-92014600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:92013600-92014600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr1:92013600-92014800	Enhancers	Fetal Stomach	stomach
21	chr1:92013600-92015000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:92013600-92015200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr1:92013600-92015200	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:92013600-92015200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:92013600-92015200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:92013600-92015200	Enhancers	Fetal Thymus	thymus
27	chr1:92013600-92017000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:92013800-92014000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:92013800-92014200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:92013800-92014400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:92013800-92014400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:92013800-92014400	Enhancers	Fetal Muscle Leg	muscle
33	chr1:92013800-92014800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr1:92013800-92015000	Enhancers	Primary B cells from cord blood	blood
35	chr1:92013800-92015000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr1:92013800-92015200	Enhancers	Spleen	Spleen
37	chr1:92013800-92018000	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:92013800-92018200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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