Variant report

Variant	rs3789612
Chromosome Location	chr1:114414108-114414109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2358816	1.00[YRI][hapmap]
rs36052758	1.00[YRI][hapmap]

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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers 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	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114410000-114417800	Enhancers	NHEK	skin
2	chr1:114410800-114415600	Enhancers	HMEC	breast
3	chr1:114411400-114414400	Active TSS	GM12878-XiMat	blood
4	chr1:114411400-114414600	Weak transcription	Small Intestine	intestine
5	chr1:114411600-114414200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:114411800-114414200	Weak transcription	HUVEC	blood vessel
7	chr1:114412000-114415200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr1:114412000-114415600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr1:114412400-114414600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:114412400-114415600	Flanking Active TSS	Dnd41	blood
11	chr1:114412600-114414600	Active TSS	Duodenum Mucosa	Duodenum
12	chr1:114412600-114415600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr1:114412600-114416000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:114412600-114417600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:114412800-114414200	Weak transcription	Colonic Mucosa	Colon
16	chr1:114412800-114414400	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr1:114413000-114414400	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr1:114413000-114414400	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr1:114413000-114415400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:114413000-114415600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr1:114413200-114414400	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr1:114413200-114415200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr1:114413200-114415600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:114413400-114414400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr1:114413400-114414400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr1:114413400-114415200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr1:114413600-114414200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:114413600-114414200	Active TSS	Right Atrium	heart
29	chr1:114413600-114414400	Active TSS	Primary T cells fromperipheralblood	blood
30	chr1:114413600-114415400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:114413800-114414400	Active TSS	Primary T cells from cord blood	blood
32	chr1:114413800-114414400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:114413800-114414400	Active TSS	Fetal Thymus	thymus
34	chr1:114414000-114414200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:114414000-114414200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:114414000-114414200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:114414000-114414200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr1:114414000-114414200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:114414000-114414200	Flanking Active TSS	Thymus	Thymus
40	chr1:114414000-114414400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:114414000-114414400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:114414000-114414400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:114414000-114414600	Flanking Active TSS	K562	blood
44	chr1:114414000-114414800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:114414000-114415200	Enhancers	NH-A	brain
46	chr1:114414000-114415200	Enhancers	NHDF-Ad	bronchial
47	chr1:114414000-114415400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:114414000-114415400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:114414000-114415400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:114414000-114415400	Enhancers	HSMM	muscle

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