Variant report

Variant	rs236309
Chromosome Location	chr1:94086665-94086666
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94085180..94089812-chr1:94310226..94315311,7	MCF-7	breast:
2	chr1:94078919..94081222-chr1:94084993..94086695,2	K562	blood:
3	chr1:94084156..94086845-chr1:94089262..94091205,3	K562	blood:
4	chr1:94085637..94087323-chr1:94315969..94317684,2	MCF-7	breast:
5	chr1:94053174..94055459-chr1:94085233..94086891,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000211575	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10489541	1.00[EUR][1000 genomes]
rs11164954	1.00[EUR][1000 genomes]
rs11800247	1.00[EUR][1000 genomes]
rs11802499	1.00[EUR][1000 genomes]
rs11805042	1.00[EUR][1000 genomes]
rs11806965	1.00[EUR][1000 genomes]
rs1593513	1.00[EUR][1000 genomes]
rs1593514	1.00[EUR][1000 genomes]
rs1593515	1.00[EUR][1000 genomes]
rs17110193	1.00[EUR][1000 genomes]
rs17110312	1.00[EUR][1000 genomes]
rs17110320	1.00[EUR][1000 genomes]
rs2221923	1.00[EUR][1000 genomes]
rs4475764	1.00[EUR][1000 genomes]
rs57453256	1.00[EUR][1000 genomes]
rs58024738	1.00[EUR][1000 genomes]
rs58591926	1.00[EUR][1000 genomes]
rs58679238	1.00[EUR][1000 genomes]
rs59653321	1.00[EUR][1000 genomes]
rs60188127	1.00[EUR][1000 genomes]
rs61372707	1.00[EUR][1000 genomes]
rs6541391	1.00[EUR][1000 genomes]
rs6541392	1.00[EUR][1000 genomes]
rs6657187	1.00[EUR][1000 genomes]
rs6661879	1.00[EUR][1000 genomes]
rs6671646	1.00[EUR][1000 genomes]
rs6686775	1.00[EUR][1000 genomes]
rs72963382	1.00[EUR][1000 genomes]
rs7525976	1.00[EUR][1000 genomes]
rs871855	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:94077200-94099000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:94079400-94086800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:94079400-94088600	Enhancers	Fetal Intestine Large	intestine
5	chr1:94079600-94088000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:94079600-94089400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:94079800-94090000	Enhancers	Stomach Mucosa	stomach
8	chr1:94080000-94088000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:94080000-94089200	Genic enhancers	NHEK	skin
10	chr1:94081200-94095000	Genic enhancers	HSMM	muscle
11	chr1:94082400-94088000	Enhancers	Fetal Intestine Small	intestine
12	chr1:94083400-94088000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:94083400-94091200	Weak transcription	Aorta	Aorta
14	chr1:94083400-94093800	Weak transcription	Psoas Muscle	Psoas
15	chr1:94083400-94108200	Weak transcription	Esophagus	oesophagus
16	chr1:94083600-94101600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:94083800-94088000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:94083800-94088200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:94083800-94091200	Weak transcription	Ovary	ovary
20	chr1:94083800-94091400	Weak transcription	Fetal Stomach	stomach
21	chr1:94083800-94095000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:94084000-94087200	Enhancers	Adipose Nuclei	Adipose
23	chr1:94084000-94088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:94084000-94088000	Weak transcription	Brain Substantia Nigra	brain
25	chr1:94084000-94088000	Weak transcription	Pancreas	Pancrea
26	chr1:94084000-94089400	Genic enhancers	HMEC	breast
27	chr1:94084000-94089800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:94084000-94090800	Weak transcription	Fetal Lung	lung
29	chr1:94084000-94091000	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:94084000-94091400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:94084200-94087600	Weak transcription	HUVEC	blood vessel
32	chr1:94084200-94087800	Weak transcription	Brain Germinal Matrix	brain
33	chr1:94084200-94087800	Enhancers	A549	lung
34	chr1:94084200-94088000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:94084200-94088000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:94084200-94088000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:94084200-94090000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:94084200-94090800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:94084200-94091400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:94084200-94101000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:94084400-94087600	Weak transcription	Liver	Liver
42	chr1:94084400-94088000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:94084400-94088000	Weak transcription	Brain Anterior Caudate	brain
44	chr1:94084400-94091400	Enhancers	HepG2	liver
45	chr1:94084600-94091200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:94085000-94087000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:94085000-94087400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr1:94085000-94088000	Enhancers	NHDF-Ad	bronchial
49	chr1:94085200-94086800	Enhancers	Fetal Muscle Trunk	muscle
50	chr1:94085200-94087000	Genic enhancers	Hela-S3	cervix

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