Variant report

Variant	rs6684030
Chromosome Location	chr1:215806881-215806882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:215806774-215806971	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr1:215806780-215806930	WERI-Rb-1	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215804685..215806344-chr1:215806371..215808060,2	K562	blood:
2	chr1:215795506..215798037-chr1:215804962..215807683,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202498	TF binding region

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs58582683	0.87[AFR][1000 genomes]
rs60427287	0.86[AFR][1000 genomes]
rs73085431	0.86[AFR][1000 genomes]
rs73085432	0.86[AFR][1000 genomes]
rs73085461	0.86[AFR][1000 genomes]
rs73087434	0.86[AFR][1000 genomes]
rs73087436	0.86[AFR][1000 genomes]
rs73087446	1.00[AFR][1000 genomes]
rs73087456	0.86[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	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215741800-215809800	Weak transcription	Colonic Mucosa	Colon
2	chr1:215750200-215809200	Weak transcription	Gastric	stomach
3	chr1:215786600-215809400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:215787200-215810200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:215792400-215810200	Weak transcription	Aorta	Aorta
6	chr1:215792600-215809800	Weak transcription	Pancreas	Pancrea
7	chr1:215794400-215810000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:215794600-215808600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:215794600-215809600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:215794800-215809400	Weak transcription	Placenta	Placenta
11	chr1:215795800-215809600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:215796000-215808000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:215796000-215809600	Weak transcription	Fetal Lung	lung
14	chr1:215797000-215809600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:215797400-215809400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:215797600-215809400	Weak transcription	Osteobl	bone
17	chr1:215797800-215810200	Weak transcription	Left Ventricle	heart
18	chr1:215798000-215809400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:215800000-215809400	Weak transcription	NHDF-Ad	bronchial
20	chr1:215805000-215809600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:215805000-215809800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:215805000-215811000	Enhancers	Fetal Intestine Large	intestine
23	chr1:215805200-215809000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:215805200-215809400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:215805200-215809600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:215805200-215809800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:215805200-215809800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:215805200-215809800	Weak transcription	Esophagus	oesophagus
29	chr1:215805400-215809200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:215805400-215809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:215805400-215809400	Weak transcription	NHEK	skin
32	chr1:215805600-215807800	Weak transcription	HepG2	liver
33	chr1:215805600-215809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:215805800-215807400	Strong transcription	Liver	Liver
35	chr1:215806000-215813600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:215806800-215807600	Weak transcription	Fetal Intestine Small	intestine

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