Variant report

Variant	rs3740085
Chromosome Location	chr10:44867769-44867770
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44856118..44857833-chr10:44865837..44868542,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1029153	0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12413068	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236534	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2297630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs754618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1054649	chr10:44848921-44889713	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr10:44849400-44869000	Weak transcription	Right Ventricle	heart
2	chr10:44850600-44877600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:44854400-44869000	Weak transcription	Brain Substantia Nigra	brain
4	chr10:44859000-44871800	Weak transcription	Psoas Muscle	Psoas
5	chr10:44860000-44879000	Weak transcription	Gastric	stomach
6	chr10:44860200-44868800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr10:44861400-44869200	Weak transcription	Colonic Mucosa	Colon
8	chr10:44863200-44869400	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:44864600-44868000	Weak transcription	NHLF	lung
10	chr10:44864600-44871600	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:44864600-44876200	Weak transcription	Brain Anterior Caudate	brain
12	chr10:44864600-44876800	Strong transcription	Fetal Stomach	stomach
13	chr10:44864800-44877800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr10:44865000-44873000	Weak transcription	Esophagus	oesophagus
15	chr10:44865200-44868600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr10:44865400-44867800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:44865400-44876200	Weak transcription	Right Atrium	heart
18	chr10:44865600-44868000	Weak transcription	Fetal Kidney	kidney
19	chr10:44865600-44878000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:44865800-44872200	Strong transcription	Fetal Intestine Small	intestine
21	chr10:44866000-44876200	Strong transcription	Left Ventricle	heart
22	chr10:44866000-44877600	Weak transcription	Fetal Brain Female	brain
23	chr10:44866200-44876000	Strong transcription	Osteobl	bone
24	chr10:44866400-44868200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr10:44866400-44868400	Weak transcription	Fetal Intestine Large	intestine
26	chr10:44866400-44868600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:44866400-44870000	Strong transcription	Fetal Muscle Leg	muscle
28	chr10:44866400-44875600	Weak transcription	Fetal Brain Male	brain
29	chr10:44866400-44878600	Weak transcription	Liver	Liver
30	chr10:44866600-44867800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:44866600-44870600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:44866600-44876200	Weak transcription	Brain Germinal Matrix	brain
33	chr10:44866600-44877600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:44866800-44867800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr10:44866800-44871800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:44866800-44875600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr10:44867000-44867800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr10:44867000-44868000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr10:44867000-44868200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr10:44867000-44872200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:44867000-44878200	Weak transcription	Brain Hippocampus Middle	brain
42	chr10:44867200-44867800	Genic enhancers	NHDF-Ad	bronchial
43	chr10:44867200-44872000	Strong transcription	Colon Smooth Muscle	Colon
44	chr10:44867200-44872000	Strong transcription	Fetal Lung	lung
45	chr10:44867400-44868000	Genic enhancers	Spleen	Spleen
46	chr10:44867400-44868200	Genic enhancers	H1 Cell Line	embryonic stem cell
47	chr10:44867400-44868200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:44867400-44868200	Genic enhancers	H9 Cell Line	embryonic stem cell
49	chr10:44867400-44868200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr10:44867400-44868800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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