Variant report

Variant	rs2774944
Chromosome Location	chr1:93339564-93339565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2774942	1.00[AMR][1000 genomes]
rs2774948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2811592	1.00[AMR][1000 genomes]
rs2811595	1.00[AMR][1000 genomes]
rs2811601	1.00[AMR][1000 genomes]
rs2989013	1.00[AMR][1000 genomes]
rs4847383	1.00[YRI][hapmap]
rs7416169	1.00[YRI][hapmap]

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93304400-93349000	Weak transcription	Aorta	Aorta
2	chr1:93309800-93342400	Weak transcription	NHLF	lung
3	chr1:93316000-93342800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:93320400-93342000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:93325000-93342800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:93325000-93343000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:93325200-93342800	Weak transcription	Liver	Liver
8	chr1:93325200-93343600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:93325200-93348400	Weak transcription	NHEK	skin
10	chr1:93325400-93342000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:93325400-93343400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:93325600-93339800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:93325600-93343200	Weak transcription	HSMMtube	muscle
14	chr1:93325800-93340000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:93326000-93339800	Weak transcription	Brain Angular Gyrus	brain
16	chr1:93328600-93342600	Weak transcription	NHDF-Ad	bronchial
17	chr1:93332000-93340600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:93333000-93348600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:93333600-93343000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:93335400-93343000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:93335600-93342400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:93335800-93348400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:93336400-93348800	Weak transcription	Left Ventricle	heart
24	chr1:93336600-93342000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:93336600-93342000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:93336600-93349200	Weak transcription	HepG2	liver
27	chr1:93337000-93340600	Weak transcription	Fetal Intestine Large	intestine
28	chr1:93337000-93348400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:93337400-93341600	Strong transcription	Primary B cells from cord blood	blood
30	chr1:93337800-93345200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:93338000-93340800	ZNF genes & repeats	GM12878-XiMat	blood
32	chr1:93338000-93341400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:93338400-93339800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:93338400-93340800	Strong transcription	Primary T cells from cord blood	blood
35	chr1:93338400-93341000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:93338400-93342400	Weak transcription	Brain Germinal Matrix	brain
37	chr1:93338400-93343000	Weak transcription	Adipose Nuclei	Adipose
38	chr1:93338600-93339800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:93338600-93339800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:93338600-93341000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:93338600-93341200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr1:93338600-93343200	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:93338800-93339800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:93338800-93339800	Weak transcription	Brain Substantia Nigra	brain
45	chr1:93338800-93339800	Weak transcription	Dnd41	blood
46	chr1:93338800-93340000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:93338800-93340000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:93338800-93340200	Weak transcription	Fetal Thymus	thymus
49	chr1:93338800-93341200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:93338800-93341800	Weak transcription	Brain Cingulate Gyrus	brain

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