Variant report

Variant	rs2627832
Chromosome Location	chr4:143187302-143187303
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1907120	0.90[AMR][1000 genomes]
rs1907134	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1907141	0.90[AMR][1000 genomes]
rs1994216	0.84[AMR][1000 genomes]
rs1994217	0.90[AMR][1000 genomes]
rs2130684	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2172024	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2245600	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2247587	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2247659	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2322703	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2627798	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2627813	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2627823	0.84[AMR][1000 genomes]
rs2627833	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2636633	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636636	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2636645	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2636682	0.91[AMR][1000 genomes]
rs2636686	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3102440	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3102445	0.83[AMR][1000 genomes]
rs3102447	0.88[AMR][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:62 , 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	chr4:143185000-143187400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr4:143185000-143187400	Enhancers	Hela-S3	cervix
13	chr4:143185000-143187600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr4:143185000-143188600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:143185400-143192400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:143185400-143199000	Weak transcription	Psoas Muscle	Psoas
17	chr4:143185600-143187400	Enhancers	NHDF-Ad	bronchial
18	chr4:143185600-143188000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:143185800-143187800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:143186000-143187400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:143186000-143187400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr4:143186000-143187400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:143186000-143187400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr4:143186000-143187400	Enhancers	Fetal Muscle Leg	muscle
25	chr4:143186000-143187400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr4:143186000-143187400	Enhancers	Stomach Mucosa	stomach
27	chr4:143186000-143187400	Enhancers	Dnd41	blood
28	chr4:143186000-143187400	Enhancers	HUVEC	blood vessel
29	chr4:143186000-143187400	Enhancers	NH-A	brain
30	chr4:143186000-143187600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:143186000-143187600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr4:143186000-143188800	Enhancers	HSMMtube	muscle
33	chr4:143186200-143187400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:143186200-143187400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:143186200-143187400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:143186200-143187400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:143186200-143187600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:143186200-143187600	Enhancers	HMEC	breast
39	chr4:143186200-143188600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr4:143186200-143188800	Enhancers	Osteobl	bone
41	chr4:143186400-143187400	Enhancers	Stomach Smooth Muscle	stomach
42	chr4:143186400-143187800	Enhancers	NHEK	skin
43	chr4:143186400-143191200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:143186600-143187400	Strong transcription	Primary T cells from cord blood	blood
45	chr4:143186600-143187600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:143186600-143191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:143186600-143199800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:143186800-143187400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:143186800-143187400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:143186800-143187400	Enhancers	Colon Smooth Muscle	Colon

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