Variant report

Variant	rs28548208
Chromosome Location	chr3:43064506-43064507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43062963..43065859-chr3:43071110..43073966,2	K562	blood:
2	chr3:43047918..43050087-chr3:43062104..43064961,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10212191	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10510736	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13087788	0.86[EUR][1000 genomes]
rs17390473	0.85[ASN][1000 genomes]
rs2001682	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28435122	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2948619	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35110063	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3953390	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs531888	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs532792	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55701670	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62247060	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62247061	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62247062	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6442134	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs644534	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67186096	0.85[ASN][1000 genomes]
rs6764648	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6783218	0.81[EUR][1000 genomes]
rs6793871	0.82[EUR][1000 genomes]
rs6794402	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6806427	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs704918	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7633590	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7643433	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs834177	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs872126	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9311332	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9812262	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9821320	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9848904	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9858123	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9863179	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9872107	0.80[EUR][1000 genomes]
rs9874514	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv432417	chr3:43045796-43098296	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43053600-43073200	Weak transcription	Right Atrium	heart
2	chr3:43059600-43074400	Weak transcription	Lung	lung
3	chr3:43059600-43084600	Weak transcription	Pancreas	Pancrea
4	chr3:43059800-43064800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr3:43059800-43065200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr3:43060200-43065200	Enhancers	Fetal Thymus	thymus
7	chr3:43060200-43065400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:43060200-43065400	Enhancers	Thymus	Thymus
9	chr3:43060600-43064600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr3:43060600-43064800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr3:43060800-43065400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr3:43060800-43069600	Weak transcription	Stomach Mucosa	stomach
13	chr3:43061000-43065000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:43061000-43065400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr3:43061000-43066200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:43061000-43072200	Weak transcription	Liver	Liver
17	chr3:43061000-43080200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:43061400-43064600	Enhancers	Primary T cells from cord blood	blood
19	chr3:43061400-43064600	Enhancers	Dnd41	blood
20	chr3:43061600-43065400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:43061800-43064800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:43061800-43073000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:43062200-43064600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:43062200-43065200	Strong transcription	Placenta	Placenta
25	chr3:43062600-43064800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr3:43063000-43077400	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:43063400-43065000	Weak transcription	Fetal Intestine Large	intestine
28	chr3:43063400-43065400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr3:43063400-43072000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:43063600-43072600	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:43063600-43084800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:43063800-43064800	Weak transcription	Adipose Nuclei	Adipose
33	chr3:43063800-43065200	Weak transcription	Fetal Intestine Small	intestine
34	chr3:43064000-43077800	Weak transcription	Brain Substantia Nigra	brain
35	chr3:43064200-43065600	Weak transcription	Fetal Brain Male	brain
36	chr3:43064400-43066600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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