Variant report

Variant	rs236339
Chromosome Location	chr1:94069288-94069289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94067522..94070009-chr1:94070817..94072858,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs183539	1.00[EUR][1000 genomes]
rs236327	1.00[YRI][hapmap]
rs236338	1.00[EUR][1000 genomes]
rs236340	1.00[EUR][1000 genomes]
rs59218301	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
2	chr1:94057400-94071000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
4	chr1:94060200-94078800	Weak transcription	Colonic Mucosa	Colon
5	chr1:94061200-94078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:94062600-94070000	Weak transcription	Osteobl	bone
7	chr1:94062600-94073000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:94063600-94069600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:94064200-94069400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:94064400-94073800	Weak transcription	Aorta	Aorta
11	chr1:94064400-94074200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:94064800-94070400	Weak transcription	NH-A	brain
13	chr1:94064800-94073200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:94065000-94070000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:94065000-94070000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:94065000-94071000	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:94065000-94071200	Weak transcription	HUVEC	blood vessel
18	chr1:94065000-94073800	Weak transcription	Esophagus	oesophagus
19	chr1:94065000-94073800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:94065200-94069800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:94065200-94071000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:94065800-94070000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:94066000-94070000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:94066200-94069400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:94066200-94073800	Weak transcription	Fetal Stomach	stomach
26	chr1:94066400-94070400	Weak transcription	NHLF	lung
27	chr1:94066400-94079200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:94066400-94079600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:94066600-94069600	Strong transcription	Hela-S3	cervix
30	chr1:94066600-94070200	Weak transcription	Adipose Nuclei	Adipose
31	chr1:94066600-94070600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:94066600-94072400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:94066600-94073000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:94066800-94070400	Weak transcription	Pancreas	Pancrea
35	chr1:94066800-94070800	Weak transcription	Brain Anterior Caudate	brain
36	chr1:94067200-94070200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:94067200-94070600	Weak transcription	Gastric	stomach
38	chr1:94067200-94071800	Weak transcription	Liver	Liver
39	chr1:94067200-94072000	Weak transcription	Right Ventricle	heart
40	chr1:94067400-94069600	Weak transcription	A549	lung
41	chr1:94067400-94069600	Strong transcription	HepG2	liver
42	chr1:94067600-94070800	Strong transcription	NHEK	skin
43	chr1:94068000-94069800	Weak transcription	Stomach Mucosa	stomach
44	chr1:94068000-94070400	Weak transcription	Fetal Intestine Small	intestine
45	chr1:94068000-94071000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:94068000-94072400	Weak transcription	Lung	lung
47	chr1:94068200-94079200	Genic enhancers	HSMM	muscle
48	chr1:94068400-94071200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:94068600-94072000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:94068800-94069400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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