Variant report

Variant	rs17743282
Chromosome Location	chr1:213417506-213417507
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213412075..213413752-chr1:213416133..213417762,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72745843	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv1012014	chr1:213371127-213423214	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001201	chr1:213385827-213428021	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv508693	chr1:213406220-213421626	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
3	chr1:213370800-213427600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:213373000-213423000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:213378800-213421200	Weak transcription	Fetal Kidney	kidney
6	chr1:213381600-213425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:213388000-213424600	Weak transcription	Gastric	stomach
8	chr1:213388200-213426200	Weak transcription	Lung	lung
9	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
10	chr1:213388600-213418200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:213391200-213439200	Weak transcription	Primary B cells from cord blood	blood
12	chr1:213394400-213420200	Weak transcription	GM12878-XiMat	blood
13	chr1:213398600-213427200	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:213399600-213418000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:213401200-213447400	Weak transcription	Small Intestine	intestine
16	chr1:213402800-213454800	Weak transcription	Brain Substantia Nigra	brain
17	chr1:213403200-213418000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:213405400-213423000	Weak transcription	A549	lung
19	chr1:213405600-213418200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:213405600-213418200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:213405600-213440000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:213405600-213454800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:213405800-213418000	Weak transcription	Fetal Lung	lung
24	chr1:213405800-213423200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:213405800-213423800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:213405800-213436000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:213405800-213457600	Weak transcription	NHLF	lung
28	chr1:213406000-213418200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:213406000-213418200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:213406000-213450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:213406200-213418200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:213406200-213418200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:213406200-213418200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:213406200-213418600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:213406200-213421200	Weak transcription	Psoas Muscle	Psoas
36	chr1:213406200-213422000	Weak transcription	HSMM	muscle
37	chr1:213406200-213445600	Weak transcription	NHDF-Ad	bronchial
38	chr1:213406200-213454800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:213408600-213418200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:213409800-213424200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:213412400-213418200	Weak transcription	Fetal Heart	heart
42	chr1:213412600-213452400	Weak transcription	Right Ventricle	heart
43	chr1:213412800-213418400	Weak transcription	Fetal Brain Female	brain
44	chr1:213413600-213418200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:213413800-213417800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr1:213414600-213425400	Weak transcription	NH-A	brain
47	chr1:213414600-213438400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:213414600-213440000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:213414800-213445400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:213414800-213445600	Weak transcription	Stomach Smooth Muscle	stomach

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