Variant report

Variant	rs74077637
Chromosome Location	chr13:49065906-49065907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49063272..49066257-chr13:49067561..49069081,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs4151562	1.00[AMR][1000 genomes]
rs4151582	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151594	1.00[AMR][1000 genomes]
rs55816660	1.00[AMR][1000 genomes]
rs55926808	1.00[AMR][1000 genomes]
rs56948396	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60410511	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61257669	1.00[AMR][1000 genomes]
rs7330657	1.00[AMR][1000 genomes]
rs7337289	1.00[AMR][1000 genomes]
rs74074903	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074908	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74075996	1.00[AMR][1000 genomes]
rs74077619	1.00[AMR][1000 genomes]
rs74077639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077645	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7999469	1.00[AMR][1000 genomes]
rs9331982	1.00[AMR][1000 genomes]
rs9331989	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332011	1.00[AMR][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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv3384312	chr13:49063851-49067249	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49023800-49073800	Weak transcription	NH-A	brain
2	chr13:49025600-49066200	Weak transcription	Psoas Muscle	Psoas
3	chr13:49028000-49071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:49030600-49070600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:49031600-49066200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:49032000-49066200	Weak transcription	Colonic Mucosa	Colon
7	chr13:49032400-49066200	Weak transcription	Spleen	Spleen
8	chr13:49032400-49066600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:49032400-49066600	Weak transcription	Ovary	ovary
10	chr13:49032400-49067400	Weak transcription	Pancreas	Pancrea
11	chr13:49032400-49067600	Weak transcription	Gastric	stomach
12	chr13:49032800-49066200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr13:49034400-49073800	Weak transcription	Esophagus	oesophagus
14	chr13:49035200-49073400	Weak transcription	Fetal Intestine Small	intestine
15	chr13:49035600-49066000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:49035800-49066400	Weak transcription	NHEK	skin
17	chr13:49049800-49066200	Weak transcription	Lung	lung
18	chr13:49053600-49071200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:49053800-49066600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:49054200-49066600	Weak transcription	Aorta	Aorta
22	chr13:49054400-49066200	Weak transcription	Brain Angular Gyrus	brain
23	chr13:49054400-49066200	Weak transcription	Placenta	Placenta
24	chr13:49054400-49066200	Weak transcription	HSMMtube	muscle
25	chr13:49054400-49066400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr13:49054400-49066600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:49054600-49066000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:49054600-49066200	Weak transcription	HMEC	breast
29	chr13:49057400-49068400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:49060600-49067400	Weak transcription	Stomach Mucosa	stomach
31	chr13:49061400-49072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr13:49062200-49066200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:49062200-49066400	Weak transcription	Right Ventricle	heart
34	chr13:49062400-49066200	Enhancers	Primary B cells from peripheral blood	blood
35	chr13:49062400-49067200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr13:49062600-49070800	Weak transcription	Fetal Brain Male	brain
37	chr13:49062800-49066000	Weak transcription	Fetal Muscle Leg	muscle
38	chr13:49062800-49066200	Weak transcription	Fetal Stomach	stomach
39	chr13:49062800-49066200	Weak transcription	HSMM	muscle
40	chr13:49062800-49066800	Weak transcription	Fetal Kidney	kidney
41	chr13:49062800-49067400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:49062800-49070400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr13:49062800-49072000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:49063000-49067400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr13:49063000-49068000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr13:49063000-49087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:49063200-49067400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr13:49063200-49071000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr13:49063400-49066400	Weak transcription	Fetal Brain Female	brain
50	chr13:49063600-49067200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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