Variant report

Variant	rs3730156
Chromosome Location	chr10:49612844-49612845
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	chr10:49605353..49609385-chr10:49612341..49615386,5	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10508902	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11101311	1.00[ASN][1000 genomes]
rs12259267	1.00[ASN][1000 genomes]
rs17010433	1.00[ASN][1000 genomes]
rs17697960	1.00[ASN][1000 genomes]
rs17697978	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17698002	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17698086	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17770456	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17770535	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17770554	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978997	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35009243	1.00[ASN][1000 genomes]
rs3730157	0.82[AMR][1000 genomes]
rs3730158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3730161	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4354648	1.00[ASN][1000 genomes]
rs57115982	1.00[ASN][1000 genomes]
rs57990560	1.00[ASN][1000 genomes]
rs61838674	1.00[ASN][1000 genomes]
rs61838676	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61838695	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61838696	0.82[AMR][1000 genomes]
rs61840551	1.00[ASN][1000 genomes]
rs61840552	1.00[ASN][1000 genomes]
rs61840553	1.00[ASN][1000 genomes]
rs61840555	0.90[ASN][1000 genomes]
rs724124	1.00[ASN][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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49595000-49616000	Weak transcription	Primary B cells from cord blood	blood
2	chr10:49598600-49619800	Weak transcription	Fetal Intestine Small	intestine
3	chr10:49599200-49622200	Weak transcription	HepG2	liver
4	chr10:49599800-49618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr10:49600000-49613400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:49600000-49613600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr10:49600000-49618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr10:49600200-49617400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:49600200-49618200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr10:49600400-49616800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr10:49600400-49620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:49601200-49613800	Weak transcription	Primary T cells from cord blood	blood
13	chr10:49605200-49618000	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:49606800-49619800	Weak transcription	Fetal Stomach	stomach
15	chr10:49607600-49613800	Weak transcription	Placenta	Placenta
16	chr10:49607600-49614200	Weak transcription	Right Atrium	heart
17	chr10:49607600-49616600	Weak transcription	Fetal Thymus	thymus
18	chr10:49607600-49616800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr10:49607600-49618000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr10:49607600-49619400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:49607600-49619600	Weak transcription	Colonic Mucosa	Colon
22	chr10:49607600-49619600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr10:49607600-49624200	Weak transcription	Gastric	stomach
24	chr10:49607600-49624200	Weak transcription	Lung	lung
25	chr10:49607600-49647800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:49607600-49652400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:49607800-49614200	Weak transcription	Fetal Heart	heart
28	chr10:49607800-49614200	Weak transcription	Psoas Muscle	Psoas
29	chr10:49607800-49616800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr10:49607800-49620400	Weak transcription	Stomach Mucosa	stomach
31	chr10:49608000-49614200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr10:49608000-49614400	Weak transcription	Ovary	ovary
33	chr10:49608000-49645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr10:49608200-49618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:49608200-49618200	Weak transcription	Fetal Kidney	kidney
36	chr10:49608200-49619400	Weak transcription	Colon Smooth Muscle	Colon
37	chr10:49608200-49621000	Weak transcription	Small Intestine	intestine
38	chr10:49608200-49634400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr10:49608400-49614200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr10:49608400-49618200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr10:49608600-49620200	Weak transcription	Right Ventricle	heart
42	chr10:49608800-49613800	Weak transcription	NH-A	brain
43	chr10:49608800-49614200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr10:49608800-49614200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:49608800-49614400	Weak transcription	NHLF	lung
46	chr10:49608800-49616800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr10:49608800-49618000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr10:49608800-49618200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr10:49608800-49618600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr10:49609000-49613400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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