Variant report

Variant	rs347911
Chromosome Location	chr1:120188180-120188181
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120161786..120164966-chr1:120184691..120189749,4	K562	blood:
2	chr1:120186660..120189165-chr1:120218209..120219908,2	K562	blood:
3	chr1:120187998..120191080-chr1:120201790..120203947,3	K562	blood:
4	chr1:120170976..120174550-chr1:120185288..120189163,4	MCF-7	breast:
5	chr1:120161786..120164966-chr1:120187188..120189749,3	K562	blood:

Variant related genes	Relation type
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs347904	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs376910	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs838986	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs838989	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs838990	0.82[GIH][hapmap];0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS 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 target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120163600-120188400	Weak transcription	Hela-S3	cervix
2	chr1:120165800-120189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:120175200-120188200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:120175400-120188200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:120175400-120189200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:120175600-120188200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:120176000-120188400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:120176200-120188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:120177000-120188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:120177000-120188400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:120177000-120189000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:120179000-120188400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:120179000-120188400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:120179400-120188400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:120180000-120188400	Weak transcription	Fetal Kidney	kidney
16	chr1:120180200-120188400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:120180200-120188600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:120180200-120189000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:120180200-120189200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:120181000-120189000	Weak transcription	Fetal Brain Female	brain
21	chr1:120181600-120188600	Weak transcription	Lung	lung
22	chr1:120181600-120189200	Weak transcription	Pancreas	Pancrea
23	chr1:120181800-120189000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:120182000-120188600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:120182200-120188600	Weak transcription	Gastric	stomach
26	chr1:120182400-120188200	Weak transcription	Placenta	Placenta
27	chr1:120182400-120188400	Weak transcription	Fetal Stomach	stomach
28	chr1:120183400-120188200	Weak transcription	Brain Germinal Matrix	brain
29	chr1:120183400-120188400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:120183400-120188600	Weak transcription	Ovary	ovary
31	chr1:120183400-120188600	Weak transcription	Right Atrium	heart
32	chr1:120183400-120188600	Weak transcription	Right Ventricle	heart
33	chr1:120183400-120190200	Weak transcription	Small Intestine	intestine
34	chr1:120183600-120188200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:120183600-120188400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:120183800-120188200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:120184000-120188600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:120185000-120188800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:120185400-120188800	Enhancers	Fetal Heart	heart
40	chr1:120185600-120188400	Enhancers	NHLF	lung
41	chr1:120185800-120188600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:120186000-120188200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:120186000-120188200	Enhancers	HUVEC	blood vessel
44	chr1:120186000-120188400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:120186000-120188600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr1:120186200-120188200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:120186600-120188400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr1:120186800-120188400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:120186800-120188600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:120186800-120188800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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