Variant report

Variant	rs2234417
Chromosome Location	chr13:30346133-30346134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30344923..30346437-chr13:30688756..30689754,7	MCF-7	breast:
2	chr13:30342827..30348055-chr13:30683488..30688791,7	MCF-7	breast:
3	chr13:30344222..30347052-chr13:30686907..30688799,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12428341	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17073936	1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs182178	1.00[CHD][hapmap]
rs1886170	1.00[CHD][hapmap]
rs2388244	1.00[CHD][hapmap]
rs278037	1.00[CHD][hapmap]
rs280920	1.00[CHB][hapmap]
rs35803474	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4769774	0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs57008645	0.83[ASN][1000 genomes]
rs598281	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs9314970	0.83[ASN][1000 genomes]
rs9314976	1.00[ASN][1000 genomes]
rs9508556	1.00[CHD][hapmap]

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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr13:30328800-30347800	Weak transcription	Fetal Kidney	kidney
2	chr13:30328800-30351800	Weak transcription	NH-A	brain
3	chr13:30328800-30352600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:30329200-30351200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:30330600-30355000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:30333200-30353800	Weak transcription	Gastric	stomach
7	chr13:30333200-30360200	Weak transcription	Pancreas	Pancrea
8	chr13:30333200-30368200	Weak transcription	Aorta	Aorta
9	chr13:30333400-30357000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:30335200-30356800	Weak transcription	GM12878-XiMat	blood
12	chr13:30335400-30349800	Weak transcription	Fetal Stomach	stomach
13	chr13:30336400-30357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:30336600-30353800	Weak transcription	Psoas Muscle	Psoas
15	chr13:30337600-30363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:30337800-30359800	Weak transcription	HMEC	breast
17	chr13:30338400-30354000	Weak transcription	Colon Smooth Muscle	Colon
18	chr13:30338400-30360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:30338400-30360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:30338600-30357000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr13:30338800-30347400	Weak transcription	Stomach Mucosa	stomach
22	chr13:30339000-30360200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr13:30339000-30364200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr13:30339400-30350800	Weak transcription	Hela-S3	cervix
25	chr13:30339600-30349600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr13:30339800-30346400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr13:30341000-30347400	Weak transcription	Brain Substantia Nigra	brain
28	chr13:30341200-30346600	Weak transcription	NHLF	lung
29	chr13:30341200-30373200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr13:30341400-30347800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr13:30341400-30348600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:30341400-30348600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr13:30341400-30349600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:30341400-30352200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr13:30341400-30360200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr13:30341600-30347200	Weak transcription	HUVEC	blood vessel
37	chr13:30341600-30349800	Weak transcription	Fetal Lung	lung
38	chr13:30341600-30353000	Weak transcription	Fetal Intestine Large	intestine
39	chr13:30341600-30356800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr13:30341600-30357200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr13:30341600-30360200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr13:30341800-30346400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr13:30341800-30347000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr13:30341800-30347200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr13:30341800-30347800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr13:30341800-30347800	Weak transcription	Thymus	Thymus
47	chr13:30341800-30349000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr13:30341800-30350600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr13:30341800-30351000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:30341800-30353800	Weak transcription	Primary B cells from peripheral blood	blood

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