Variant report

Variant	rs1949585
Chromosome Location	chr3:43146116-43146117
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43142624..43144798-chr3:43145061..43147327,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12639294	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2002182	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2936818	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4683355	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs493412	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs584233	0.80[EUR][1000 genomes]
rs729654	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7625703	0.85[AFR][1000 genomes]
rs7648947	0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][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	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43123000-43146400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:43123000-43146600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:43123400-43146400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:43123600-43146600	Weak transcription	Fetal Intestine Small	intestine
5	chr3:43124400-43146600	Weak transcription	Aorta	Aorta
6	chr3:43124600-43146800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:43136800-43146600	Weak transcription	Esophagus	oesophagus
8	chr3:43138800-43146200	Weak transcription	HSMMtube	muscle
9	chr3:43140000-43146200	Weak transcription	Liver	Liver
10	chr3:43143200-43146200	Enhancers	Fetal Muscle Leg	muscle
11	chr3:43143200-43146600	Enhancers	Placenta	Placenta
12	chr3:43143400-43146600	Enhancers	Left Ventricle	heart
13	chr3:43143600-43146400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:43143600-43146400	Enhancers	Fetal Stomach	stomach
15	chr3:43143800-43146800	Enhancers	Fetal Heart	heart
16	chr3:43144000-43146400	Enhancers	Pancreas	Pancrea
17	chr3:43144200-43146400	Enhancers	Lung	lung
18	chr3:43144200-43146600	Enhancers	Right Atrium	heart
19	chr3:43144400-43146200	Enhancers	Fetal Brain Male	brain
20	chr3:43144400-43146400	Enhancers	Brain Substantia Nigra	brain
21	chr3:43144400-43146400	Enhancers	Fetal Muscle Trunk	muscle
22	chr3:43144400-43146600	Enhancers	Right Ventricle	heart
23	chr3:43144800-43146200	Enhancers	Ovary	ovary
24	chr3:43145000-43146200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr3:43145000-43146200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:43145000-43146200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr3:43145000-43146400	Enhancers	Colon Smooth Muscle	Colon
28	chr3:43145000-43146600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr3:43145200-43146200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:43145200-43146200	Weak transcription	Psoas Muscle	Psoas
31	chr3:43145200-43146400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr3:43145200-43146400	Weak transcription	Thymus	Thymus
33	chr3:43145600-43146200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr3:43145600-43146200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:43145600-43146200	Enhancers	Adipose Nuclei	Adipose
36	chr3:43145600-43146400	Enhancers	Primary T cells from cord blood	blood
37	chr3:43145600-43146400	Enhancers	HepG2	liver
38	chr3:43145600-43146600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr3:43145600-43146600	Enhancers	Fetal Thymus	thymus
40	chr3:43145800-43146200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:43145800-43146200	Enhancers	Brain Hippocampus Middle	brain
42	chr3:43145800-43146200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr3:43145800-43146400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr3:43145800-43146400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr3:43145800-43146400	Enhancers	K562	blood
46	chr3:43145800-43146600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr3:43145800-43146600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:43145800-43146800	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr3:43145800-43146800	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr3:43145800-43146800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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