Variant report

Variant	rs6844709
Chromosome Location	chr4:143187116-143187117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10001631	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10003428	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17015623	0.88[AMR][1000 genomes]
rs17015729	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17015754	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17015774	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17015778	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17015779	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17705389	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2322546	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2322547	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2322548	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2627810	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2636646	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28420315	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28448773	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28529144	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28533923	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28584886	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28611471	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28647625	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28672226	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28690972	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28705116	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4629539	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6818542	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6818735	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6835967	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6846839	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6847049	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72722471	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7672615	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7691738	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[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:63 , 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	chr4:143181400-143187200	Weak transcription	Right Ventricle	heart
4	chr4:143181400-143191400	Weak transcription	Left Ventricle	heart
5	chr4:143181600-143195600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:143183000-143204800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:143183400-143189600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr4:143183600-143189200	Enhancers	Fetal Heart	heart
9	chr4:143184200-143189000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:143184200-143189400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:143184400-143187200	Weak transcription	Pancreas	Pancrea
12	chr4:143184800-143189000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:143185000-143187400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr4:143185000-143187400	Enhancers	Hela-S3	cervix
15	chr4:143185000-143187600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr4:143185000-143188600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:143185400-143192400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:143185400-143199000	Weak transcription	Psoas Muscle	Psoas
19	chr4:143185600-143187200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:143185600-143187400	Enhancers	NHDF-Ad	bronchial
21	chr4:143185600-143188000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr4:143185800-143187800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:143186000-143187400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:143186000-143187400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr4:143186000-143187400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:143186000-143187400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr4:143186000-143187400	Enhancers	Fetal Muscle Leg	muscle
28	chr4:143186000-143187400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr4:143186000-143187400	Enhancers	Stomach Mucosa	stomach
30	chr4:143186000-143187400	Enhancers	Dnd41	blood
31	chr4:143186000-143187400	Enhancers	HUVEC	blood vessel
32	chr4:143186000-143187400	Enhancers	NH-A	brain
33	chr4:143186000-143187600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:143186000-143187600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr4:143186000-143188800	Enhancers	HSMMtube	muscle
36	chr4:143186200-143187400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:143186200-143187400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:143186200-143187400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:143186200-143187400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:143186200-143187600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:143186200-143187600	Enhancers	HMEC	breast
42	chr4:143186200-143188600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr4:143186200-143188800	Enhancers	Osteobl	bone
44	chr4:143186400-143187200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr4:143186400-143187400	Enhancers	Stomach Smooth Muscle	stomach
46	chr4:143186400-143187800	Enhancers	NHEK	skin
47	chr4:143186400-143191200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:143186600-143187200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr4:143186600-143187400	Strong transcription	Primary T cells from cord blood	blood
50	chr4:143186600-143187600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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