Variant report

Variant	rs11161539
Chromosome Location	chr1:85648905-85648906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85648216..85651053-chr1:85665650..85668630,4	K562	blood:
2	chr1:85642542..85645439-chr1:85647337..85651293,4	K562	blood:
3	chr1:85648785..85651613-chr1:85652965..85656068,3	K562	blood:

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction

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

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

rs_ID	r²[population]
rs10493761	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10873690	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12116526	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2168870	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7366766	0.85[EUR][1000 genomes]
rs7531640	0.81[JPT][hapmap]

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:77 , 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	chr1:85619000-85655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:85625600-85654600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:85626800-85655600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:85627200-85657400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:85627400-85654200	Weak transcription	Gastric	stomach
10	chr1:85627400-85655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:85627400-85663000	Weak transcription	NHEK	skin
12	chr1:85627800-85655800	Weak transcription	NHDF-Ad	bronchial
13	chr1:85627800-85664400	Weak transcription	Osteobl	bone
14	chr1:85629800-85653600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:85631200-85654000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:85631400-85654200	Weak transcription	HepG2	liver
17	chr1:85633400-85655000	Weak transcription	Fetal Intestine Small	intestine
18	chr1:85633600-85654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:85634000-85655200	Weak transcription	Fetal Stomach	stomach
20	chr1:85638400-85654800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr1:85638600-85655200	Weak transcription	Left Ventricle	heart
22	chr1:85639000-85665400	Weak transcription	Placenta	Placenta
23	chr1:85642000-85655800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:85643200-85658800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:85644200-85664400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:85645400-85654800	Weak transcription	NHLF	lung
27	chr1:85645600-85649000	Weak transcription	Stomach Mucosa	stomach
28	chr1:85645600-85655800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:85645800-85659400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:85645800-85663800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:85646000-85655800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:85646000-85659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:85646000-85661400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:85646000-85664800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:85646200-85663600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:85646600-85665200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:85646800-85663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:85647000-85658200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:85647000-85661400	Weak transcription	Right Ventricle	heart
40	chr1:85647200-85664400	Weak transcription	Fetal Kidney	kidney
41	chr1:85648000-85649000	Enhancers	Rectal Smooth Muscle	rectum
42	chr1:85648200-85654200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:85648400-85654200	Weak transcription	Fetal Lung	lung
44	chr1:85648400-85665200	Weak transcription	Ovary	ovary
45	chr1:85648400-85665200	Weak transcription	HSMM	muscle
46	chr1:85648600-85649000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:85648600-85649000	Active TSS	Right Atrium	heart
48	chr1:85648600-85650000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:85648600-85650000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:85648600-85653800	Weak transcription	Colon Smooth Muscle	Colon

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