Variant report

Variant	rs74139152
Chromosome Location	chr1:213350440-213350441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213334673..213336894-chr1:213348802..213350887,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17020231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56149571	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74139104	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74139106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74139154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74139155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74139157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74139161	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74139162	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74139163	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140543	1.00[AMR][1000 genomes]
rs74140564	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:213301000-213374800	Weak transcription	HSMM	muscle
3	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:213310000-213370400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:213317800-213351600	Weak transcription	Fetal Kidney	kidney
6	chr1:213325200-213359600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:213325600-213353400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:213327000-213351000	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:213327800-213352800	Weak transcription	Esophagus	oesophagus
11	chr1:213328000-213358200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:213328200-213387200	Weak transcription	Spleen	Spleen
13	chr1:213328400-213353400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:213328600-213360200	Weak transcription	K562	blood
15	chr1:213329000-213351200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:213329000-213351200	Weak transcription	Fetal Stomach	stomach
17	chr1:213330200-213352000	Weak transcription	Fetal Intestine Large	intestine
18	chr1:213330600-213357200	Weak transcription	Dnd41	blood
19	chr1:213333000-213359800	Weak transcription	Fetal Lung	lung
20	chr1:213336600-213355800	Weak transcription	NH-A	brain
21	chr1:213336600-213357400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:213336800-213361200	Weak transcription	NHDF-Ad	bronchial
23	chr1:213337400-213359800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:213337800-213374400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:213338200-213360200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:213338400-213360200	Weak transcription	Small Intestine	intestine
27	chr1:213340200-213359600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:213340600-213353800	Weak transcription	Brain Angular Gyrus	brain
29	chr1:213340600-213358600	Weak transcription	Psoas Muscle	Psoas
30	chr1:213340600-213359800	Weak transcription	Right Ventricle	heart
31	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
32	chr1:213340800-213360200	Weak transcription	Aorta	Aorta
33	chr1:213341400-213358200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:213342600-213353400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:213343600-213359600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:213344200-213360200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:213344600-213359800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:213345200-213352200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr1:213345600-213353400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:213345600-213358600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:213345600-213404600	Weak transcription	Osteobl	bone
42	chr1:213346000-213352000	Weak transcription	Fetal Brain Female	brain
43	chr1:213346200-213350800	Weak transcription	Brain Anterior Caudate	brain
44	chr1:213346200-213354400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:213346200-213354400	Weak transcription	Lung	lung
46	chr1:213346200-213356000	Weak transcription	Brain Substantia Nigra	brain
47	chr1:213346200-213358600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:213346200-213387400	Weak transcription	Gastric	stomach
49	chr1:213346400-213354200	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:213346400-213356400	Weak transcription	Liver	Liver

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