Variant report

Variant	rs17020376
Chromosome Location	chr1:213447332-213447333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213447316..213454346-chr1:213454663..213460102,7	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11800290	1.00[MKK][hapmap]
rs11810436	0.82[AFR][1000 genomes]
rs11811152	0.82[AFR][1000 genomes]
rs11811908	0.91[AFR][1000 genomes]
rs17020299	0.91[AFR][1000 genomes]
rs17020350	0.91[AFR][1000 genomes]
rs7417589	0.91[AFR][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
2	chr1:213401200-213447400	Weak transcription	Small Intestine	intestine
3	chr1:213402800-213454800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:213405600-213454800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:213405800-213457600	Weak transcription	NHLF	lung
6	chr1:213406000-213450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:213406200-213454800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:213412600-213452400	Weak transcription	Right Ventricle	heart
9	chr1:213415400-213450200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:213415600-213451000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:213415600-213453800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:213417200-213453600	Weak transcription	HSMMtube	muscle
13	chr1:213418400-213449200	Weak transcription	Fetal Lung	lung
14	chr1:213425000-213447400	Weak transcription	Pancreas	Pancrea
15	chr1:213427000-213451400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:213431200-213450600	Weak transcription	Psoas Muscle	Psoas
17	chr1:213433800-213454800	Weak transcription	Brain Anterior Caudate	brain
18	chr1:213434400-213454800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:213434400-213454800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:213434600-213449200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:213434600-213453800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:213434600-213453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:213435200-213456200	Weak transcription	Esophagus	oesophagus
24	chr1:213436400-213447600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:213438600-213449600	Weak transcription	Gastric	stomach
26	chr1:213440000-213451400	Weak transcription	NH-A	brain
27	chr1:213440000-213469800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:213440400-213450800	Weak transcription	Fetal Stomach	stomach
29	chr1:213440600-213449400	Weak transcription	Ovary	ovary
30	chr1:213440600-213449800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr1:213440600-213452400	Weak transcription	Aorta	Aorta
32	chr1:213440600-213454200	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:213440600-213454400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:213440600-213454800	Weak transcription	Left Ventricle	heart
35	chr1:213440800-213447400	Weak transcription	Primary T cells from cord blood	blood
36	chr1:213440800-213447400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:213440800-213449200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:213440800-213449800	Weak transcription	GM12878-XiMat	blood
39	chr1:213440800-213450800	Weak transcription	Fetal Intestine Small	intestine
40	chr1:213440800-213451000	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:213440800-213457600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:213440800-213465800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:213441000-213454600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:213441200-213447600	Weak transcription	Fetal Brain Male	brain
45	chr1:213441400-213448400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:213441600-213447400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:213441800-213448000	Weak transcription	HSMM	muscle
48	chr1:213442400-213448000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr1:213442800-213449000	Weak transcription	Fetal Intestine Large	intestine
50	chr1:213443000-213447400	Weak transcription	Brain Hippocampus Middle	brain

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