Variant report

Variant	rs34549672
Chromosome Location	chr3:45949954-45949955
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45948084..45950746-chr3:45951152..45952829,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1488371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1860264	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1985356	0.81[ASN][1000 genomes]
rs28501674	0.81[ASN][1000 genomes]
rs34847985	0.82[ASN][1000 genomes]
rs4683147	0.96[ASN][1000 genomes]
rs57295094	0.81[ASN][1000 genomes]
rs57527954	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61565453	0.81[ASN][1000 genomes]
rs62245098	0.81[ASN][1000 genomes]
rs62245102	0.81[ASN][1000 genomes]
rs6441930	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6441932	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6441933	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6791859	0.81[ASN][1000 genomes]
rs6798047	0.87[ASN][1000 genomes]
rs7613548	0.87[ASN][1000 genomes]
rs7614342	0.81[ASN][1000 genomes]
rs875890	0.81[ASN][1000 genomes]
rs875891	0.81[ASN][1000 genomes]
rs9834860	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9852270	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9862611	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9868455	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45932400-45960200	Weak transcription	Fetal Intestine Small	intestine
2	chr3:45934000-45960200	Weak transcription	Right Ventricle	heart
3	chr3:45936600-45950200	Genic enhancers	Fetal Thymus	thymus
4	chr3:45940000-45959800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:45941200-45952400	Weak transcription	Psoas Muscle	Psoas
6	chr3:45941400-45960000	Weak transcription	Adipose Nuclei	Adipose
7	chr3:45943000-45961000	Weak transcription	Brain Substantia Nigra	brain
8	chr3:45943200-45950800	Genic enhancers	Thymus	Thymus
9	chr3:45943600-45961200	Weak transcription	Gastric	stomach
10	chr3:45946200-45956800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:45946200-45960400	Weak transcription	Aorta	Aorta
12	chr3:45946600-45950000	ZNF genes & repeats	GM12878-XiMat	blood
13	chr3:45947000-45960200	Weak transcription	Lung	lung
14	chr3:45947800-45950000	Enhancers	NHDF-Ad	bronchial
15	chr3:45947800-45950200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:45947800-45950200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:45947800-45950200	Enhancers	Duodenum Mucosa	Duodenum
18	chr3:45947800-45956800	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr3:45948000-45950000	Weak transcription	Primary B cells from cord blood	blood
20	chr3:45948000-45950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:45948000-45950000	Enhancers	Osteobl	bone
22	chr3:45948000-45950200	Enhancers	Placenta	Placenta
23	chr3:45948200-45961000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:45948400-45961600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:45948600-45950000	Enhancers	Fetal Muscle Trunk	muscle
26	chr3:45948600-45951000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr3:45948800-45950000	Enhancers	Esophagus	oesophagus
28	chr3:45948800-45950000	Flanking Active TSS	HSMMtube	muscle
29	chr3:45948800-45950600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr3:45948800-45951800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:45948800-45960200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:45949000-45950000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:45949000-45950000	Weak transcription	Colonic Mucosa	Colon
34	chr3:45949000-45950400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr3:45949000-45950800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:45949200-45950200	Enhancers	K562	blood
37	chr3:45949200-45950600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:45949200-45950600	Enhancers	Spleen	Spleen
39	chr3:45949200-45962400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr3:45949400-45950000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:45949400-45950200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr3:45949400-45950200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:45949400-45950200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr3:45949400-45950800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr3:45949400-45958400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:45949600-45950000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr3:45949600-45950200	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr3:45949600-45950200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr3:45949600-45950200	ZNF genes & repeats	Pancreas	Pancrea
50	chr3:45949600-45950600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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