Variant report

Variant	rs17327849
Chromosome Location	chr2:153401365-153401366
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	chr2:153400047..153401814-chr2:153483304..153486097,2	MCF-7	breast:
2	chr2:153400216..153402948-chr2:153409947..153412606,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13398440	1.00[CHB][hapmap]
rs13425532	1.00[CHB][hapmap]
rs17327856	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346199	1.00[CHB][hapmap]
rs62181861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181863	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707033	1.00[CHB][hapmap]
rs6740909	1.00[CHB][hapmap]
rs934751	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
2	chr2:153391400-153403800	Weak transcription	Fetal Brain Female	brain
3	chr2:153392800-153402800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:153392800-153404600	Weak transcription	Left Ventricle	heart
5	chr2:153394000-153401400	Weak transcription	Fetal Brain Male	brain
6	chr2:153398000-153402800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:153398000-153406800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:153398200-153406400	Enhancers	Brain Angular Gyrus	brain
9	chr2:153398400-153402400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:153398400-153403400	Enhancers	Ovary	ovary
11	chr2:153398400-153405200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:153398600-153402400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:153398600-153404000	Weak transcription	Gastric	stomach
14	chr2:153398800-153401600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:153398800-153406200	Enhancers	Brain Hippocampus Middle	brain
16	chr2:153399000-153402400	Weak transcription	Lung	lung
17	chr2:153399000-153405200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:153399200-153407800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:153399200-153427800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:153399400-153403200	Enhancers	Brain Substantia Nigra	brain
21	chr2:153399400-153414200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:153399400-153427600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:153399400-153429600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:153399600-153401600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:153399600-153401800	Enhancers	HUVEC	blood vessel
26	chr2:153399600-153402000	Enhancers	NH-A	brain
27	chr2:153399600-153402400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:153399600-153402800	Weak transcription	Fetal Intestine Small	intestine
29	chr2:153399600-153402800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:153399600-153411800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:153399600-153415200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:153399600-153415400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:153399600-153415800	Weak transcription	Aorta	Aorta
34	chr2:153399800-153404400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:153400000-153401400	Weak transcription	Fetal Thymus	thymus
36	chr2:153400000-153401600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:153400000-153402000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:153400000-153402400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:153400000-153405200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:153400000-153405600	Enhancers	Brain Anterior Caudate	brain
41	chr2:153400000-153405800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:153400000-153414000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:153400000-153415800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:153400000-153420800	Weak transcription	Hela-S3	cervix
45	chr2:153400000-153438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:153400000-153468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:153400200-153401400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:153400200-153401400	Weak transcription	Placenta	Placenta
49	chr2:153400200-153401600	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:153400200-153402800	Weak transcription	Stomach Mucosa	stomach

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