Variant report

Variant	rs2322704
Chromosome Location	chr4:143188776-143188777
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:1)

rs_ID	r²[population]
rs56790487	0.81[AFR][1000 genomes]

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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:143174600-143190200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:143179800-143191000	Weak transcription	Colonic Mucosa	Colon
3	chr4:143181400-143191400	Weak transcription	Left Ventricle	heart
4	chr4:143181600-143195600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:143183000-143204800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:143183400-143189600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr4:143183600-143189200	Enhancers	Fetal Heart	heart
8	chr4:143184200-143189000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:143184200-143189400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:143184800-143189000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr4:143185400-143192400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:143185400-143199000	Weak transcription	Psoas Muscle	Psoas
13	chr4:143186000-143188800	Enhancers	HSMMtube	muscle
14	chr4:143186200-143188800	Enhancers	Osteobl	bone
15	chr4:143186400-143191200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:143186600-143191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:143186600-143199800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:143187400-143189600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:143187400-143189600	Weak transcription	Pancreas	Pancrea
20	chr4:143187400-143189800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:143187400-143190000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:143187400-143190000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:143187400-143190000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:143187400-143190200	Weak transcription	Primary T cells from cord blood	blood
25	chr4:143187400-143190400	Weak transcription	HSMM	muscle
26	chr4:143187400-143190600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:143187400-143190800	Weak transcription	HUVEC	blood vessel
28	chr4:143187400-143191200	Weak transcription	Dnd41	blood
29	chr4:143187400-143193000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:143187400-143193600	Weak transcription	Small Intestine	intestine
31	chr4:143187400-143197200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:143187400-143199400	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:143187400-143199400	Weak transcription	NH-A	brain
34	chr4:143187400-143200400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:143187400-143203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:143187400-143218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:143187600-143189000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:143187600-143189600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr4:143187600-143190200	Weak transcription	HMEC	breast
40	chr4:143187600-143192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:143187600-143194600	Weak transcription	NHLF	lung
42	chr4:143187600-143196000	Weak transcription	A549	lung
43	chr4:143187600-143200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:143187800-143194000	Weak transcription	NHEK	skin
45	chr4:143188000-143188800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr4:143188000-143190200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:143188200-143188800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:143188400-143188800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:143188400-143188800	Enhancers	Stomach Mucosa	stomach
50	chr4:143188400-143188800	Enhancers	NHDF-Ad	bronchial

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