Variant report

Variant	rs2627816
Chromosome Location	chr4:143192219-143192220
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10029437	0.82[EUR][1000 genomes]
rs1907109	0.94[EUR][1000 genomes]
rs1907113	0.96[EUR][1000 genomes]
rs1907117	0.96[EUR][1000 genomes]
rs1907119	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1948323	0.96[EUR][1000 genomes]
rs2130685	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2172023	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2627812	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2627817	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2627834	0.92[EUR][1000 genomes]
rs2627835	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2627836	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2636632	0.96[EUR][1000 genomes]
rs2636635	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2636641	0.96[EUR][1000 genomes]
rs2636642	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2636643	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2636647	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2636655	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2636656	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2636657	0.92[EUR][1000 genomes]
rs2636660	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2636679	0.83[EUR][1000 genomes]
rs2636685	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3102436	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3102437	0.96[EUR][1000 genomes]
rs3102438	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3102439	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3102443	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3102444	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102446	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3113511	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3113513	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3113515	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143181600-143195600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143183000-143204800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:143185400-143192400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:143185400-143199000	Weak transcription	Psoas Muscle	Psoas
5	chr4:143186600-143199800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:143187400-143193000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:143187400-143193600	Weak transcription	Small Intestine	intestine
8	chr4:143187400-143197200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:143187400-143199400	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:143187400-143199400	Weak transcription	NH-A	brain
11	chr4:143187400-143200400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:143187400-143203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:143187400-143218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:143187600-143192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:143187600-143194600	Weak transcription	NHLF	lung
16	chr4:143187600-143196000	Weak transcription	A549	lung
17	chr4:143187600-143200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:143187800-143194000	Weak transcription	NHEK	skin
19	chr4:143188800-143194000	Weak transcription	NHDF-Ad	bronchial
20	chr4:143189000-143193000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:143189600-143192800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr4:143190000-143192800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:143190200-143192800	Strong transcription	HMEC	breast
24	chr4:143190400-143192600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:143190600-143195800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:143190800-143194000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:143191600-143194000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:143191600-143194600	Weak transcription	HSMM	muscle
29	chr4:143191800-143192400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:143191800-143192600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:143191800-143193000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:143191800-143195000	Weak transcription	HUVEC	blood vessel
33	chr4:143191800-143195800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:143192000-143193600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:143192000-143194000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:143192000-143194800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:143192000-143194800	Weak transcription	HSMMtube	muscle
38	chr4:143192000-143195200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:143192000-143195800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:143192000-143196200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:143192000-143210600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:143192000-143219400	Weak transcription	Dnd41	blood
43	chr4:143192200-143198800	Weak transcription	Primary T cells from cord blood	blood
44	chr4:143192200-143203800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:143192200-143206000	Weak transcription	Primary T cells fromperipheralblood	blood

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