Variant report

Variant	rs17122993
Chromosome Location	chr1:85647907-85647908
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	chr1:85638349..85640691-chr1:85643382..85648074,4	K562	blood:
2	chr1:85642542..85645439-chr1:85647337..85651293,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12060262	1.00[AMR][1000 genomes]
rs17122301	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123636	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6656799	0.85[AFR][1000 genomes]
rs6675935	1.00[AMR][1000 genomes]
rs7540784	1.00[AMR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv1792086	chr1:85644478-85667608	Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85608600-85655200	Weak transcription	Aorta	Aorta
2	chr1:85615400-85655200	Weak transcription	Lung	lung
3	chr1:85615600-85654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:85615800-85665800	Weak transcription	Esophagus	oesophagus
5	chr1:85617800-85648000	Weak transcription	Liver	Liver
6	chr1:85619000-85655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:85625600-85654600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:85626800-85655600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:85627200-85657400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:85627400-85654200	Weak transcription	Gastric	stomach
11	chr1:85627400-85655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:85627400-85663000	Weak transcription	NHEK	skin
13	chr1:85627600-85648000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:85627800-85655800	Weak transcription	NHDF-Ad	bronchial
15	chr1:85627800-85664400	Weak transcription	Osteobl	bone
16	chr1:85628600-85648000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:85629800-85653600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:85631200-85654000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:85631400-85654200	Weak transcription	HepG2	liver
20	chr1:85632000-85648400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:85633400-85655000	Weak transcription	Fetal Intestine Small	intestine
22	chr1:85633600-85654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:85634000-85655200	Weak transcription	Fetal Stomach	stomach
24	chr1:85638400-85654800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:85638600-85655200	Weak transcription	Left Ventricle	heart
26	chr1:85639000-85665400	Weak transcription	Placenta	Placenta
27	chr1:85642000-85655800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:85643200-85658800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:85643600-85648000	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:85644200-85664400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:85645400-85654800	Weak transcription	NHLF	lung
32	chr1:85645600-85648000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:85645600-85649000	Weak transcription	Stomach Mucosa	stomach
34	chr1:85645600-85655800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:85645800-85659400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:85645800-85663800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:85646000-85648000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:85646000-85648200	Weak transcription	Fetal Heart	heart
39	chr1:85646000-85655800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:85646000-85659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:85646000-85661400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:85646000-85664800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:85646200-85663600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:85646400-85648000	Weak transcription	HSMMtube	muscle
45	chr1:85646400-85648000	Weak transcription	NH-A	brain
46	chr1:85646600-85648800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:85646600-85665200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:85646800-85648200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:85646800-85648800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:85646800-85663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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