Variant report

Variant	rs3102446
Chromosome Location	chr4:143185640-143185641
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10029437	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1907109	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907113	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907117	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1907119	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1948323	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2130685	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2172023	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627812	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627816	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2627817	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627834	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627835	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2627836	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636629	0.80[AFR][1000 genomes]
rs2636632	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636635	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2636641	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636647	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636652	0.80[AMR][1000 genomes]
rs2636655	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636656	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636657	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636660	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636679	0.81[EUR][1000 genomes]
rs2636685	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102436	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102437	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102438	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102439	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102443	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102444	0.92[EUR][1000 genomes]
rs3113511	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113513	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3113515	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143160600-143186400	Weak transcription	HSMM	muscle
2	chr4:143164600-143186000	Weak transcription	HSMMtube	muscle
3	chr4:143171000-143185800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:143171000-143186200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:143174600-143186000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:143174600-143190200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:143179200-143186000	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:143179400-143186000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:143179600-143186000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:143179800-143191000	Weak transcription	Colonic Mucosa	Colon
11	chr4:143181200-143186400	Weak transcription	NHEK	skin
12	chr4:143181400-143187200	Weak transcription	Right Ventricle	heart
13	chr4:143181400-143191400	Weak transcription	Left Ventricle	heart
14	chr4:143181600-143186000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:143181600-143186000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:143181600-143186200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:143181600-143186200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:143181600-143195600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:143181800-143186000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:143181800-143186000	Weak transcription	Dnd41	blood
21	chr4:143181800-143186200	Weak transcription	Primary T cells from cord blood	blood
22	chr4:143182400-143186200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:143182600-143186400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:143183000-143186200	Weak transcription	Osteobl	bone
25	chr4:143183000-143204800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:143183400-143189600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr4:143183600-143189200	Enhancers	Fetal Heart	heart
28	chr4:143184000-143186400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:143184200-143186000	Enhancers	NHLF	lung
30	chr4:143184200-143189000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:143184200-143189400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:143184400-143186000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:143184400-143186800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:143184400-143187200	Weak transcription	Pancreas	Pancrea
35	chr4:143184600-143186000	Weak transcription	HUVEC	blood vessel
36	chr4:143184600-143186200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:143184600-143186200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:143184800-143189000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr4:143185000-143187400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:143185000-143187400	Enhancers	Hela-S3	cervix
41	chr4:143185000-143187600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr4:143185000-143188600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:143185200-143185800	Weak transcription	Right Atrium	heart
44	chr4:143185400-143185800	Weak transcription	A549	lung
45	chr4:143185400-143186200	Weak transcription	HMEC	breast
46	chr4:143185400-143187000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr4:143185400-143192400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:143185400-143199000	Weak transcription	Psoas Muscle	Psoas
49	chr4:143185600-143186800	Weak transcription	Small Intestine	intestine
50	chr4:143185600-143187200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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