Variant report

Variant	rs3730157
Chromosome Location	chr10:49617842-49617843
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	chr10:49615597..49618030-chr10:49714235..49716218,3	K562	blood:
2	chr10:49615995..49618408-chr10:49619011..49621814,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10508902	1.00[ASN][1000 genomes]
rs11101311	1.00[EUR][1000 genomes]
rs17010433	0.98[EUR][1000 genomes]
rs17697960	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17697978	0.83[AMR][1000 genomes]
rs17698002	0.83[AMR][1000 genomes]
rs17698086	1.00[ASN][1000 genomes]
rs1867585	0.85[EUR][1000 genomes]
rs1867587	0.81[EUR][1000 genomes]
rs3730156	0.82[AMR][1000 genomes]
rs3730158	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3730161	1.00[ASN][1000 genomes]
rs4354648	0.88[EUR][1000 genomes]
rs57115982	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57990560	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61838674	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838676	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838695	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838703	0.88[AFR][1000 genomes]
rs61838706	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61840551	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61840552	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61840553	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61840555	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs724124	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7478030	0.98[AFR][1000 genomes];0.96[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49598600-49619800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:49599200-49622200	Weak transcription	HepG2	liver
3	chr10:49599800-49618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:49600000-49618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr10:49600200-49618200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr10:49600400-49620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:49605200-49618000	Weak transcription	Fetal Muscle Leg	muscle
8	chr10:49606800-49619800	Weak transcription	Fetal Stomach	stomach
9	chr10:49607600-49618000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:49607600-49619400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr10:49607600-49619600	Weak transcription	Colonic Mucosa	Colon
12	chr10:49607600-49619600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:49607600-49624200	Weak transcription	Gastric	stomach
14	chr10:49607600-49624200	Weak transcription	Lung	lung
15	chr10:49607600-49647800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:49607600-49652400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:49607800-49620400	Weak transcription	Stomach Mucosa	stomach
18	chr10:49608000-49645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr10:49608200-49618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:49608200-49618200	Weak transcription	Fetal Kidney	kidney
21	chr10:49608200-49619400	Weak transcription	Colon Smooth Muscle	Colon
22	chr10:49608200-49621000	Weak transcription	Small Intestine	intestine
23	chr10:49608200-49634400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr10:49608400-49618200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr10:49608600-49620200	Weak transcription	Right Ventricle	heart
26	chr10:49608800-49618000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr10:49608800-49618200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:49608800-49618600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr10:49609000-49620000	Weak transcription	Brain Hippocampus Middle	brain
30	chr10:49609000-49620600	Weak transcription	Hela-S3	cervix
31	chr10:49609200-49618000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr10:49609200-49618000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:49609200-49618000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr10:49609200-49618000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr10:49609200-49618000	Weak transcription	Brain Anterior Caudate	brain
36	chr10:49609200-49618000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr10:49609200-49618000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr10:49609200-49618200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr10:49609200-49620000	Weak transcription	GM12878-XiMat	blood
40	chr10:49609200-49620800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr10:49609400-49618200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr10:49609400-49618800	Weak transcription	Fetal Brain Male	brain
43	chr10:49609600-49618000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr10:49609800-49620200	Weak transcription	Brain Angular Gyrus	brain
45	chr10:49609800-49620600	Weak transcription	Brain Substantia Nigra	brain
46	chr10:49611000-49618600	Weak transcription	Fetal Intestine Large	intestine
47	chr10:49611200-49620600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr10:49611800-49618000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr10:49612000-49664200	Weak transcription	Thymus	Thymus
50	chr10:49612400-49619600	Strong transcription	Primary T cells fromperipheralblood	blood

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