Variant report

Variant	rs17625384
Chromosome Location	chr13:30343881-30343882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30343717..30345488-chr13:30365364..30367751,2	MCF-7	breast:
2	chr13:30339629..30341793-chr13:30342795..30344909,2	MCF-7	breast:
3	chr13:30342827..30348055-chr13:30683488..30688791,7	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10492458	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11147399	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17631187	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7326521	0.93[EUR][1000 genomes]
rs745473	0.93[EUR][1000 genomes]
rs9550497	0.85[ASN][1000 genomes]
rs9551735	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9551740	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9551742	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9551746	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9551747	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9634356	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs980524	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][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	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:88 , 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	chr13:30333400-30345800	Weak transcription	HepG2	liver
10	chr13:30333400-30357000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr13:30335200-30356800	Weak transcription	GM12878-XiMat	blood
13	chr13:30335400-30349800	Weak transcription	Fetal Stomach	stomach
14	chr13:30336400-30357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:30336600-30353800	Weak transcription	Psoas Muscle	Psoas
16	chr13:30337600-30363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:30337800-30359800	Weak transcription	HMEC	breast
18	chr13:30338200-30344000	Weak transcription	Ovary	ovary
19	chr13:30338400-30345000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr13:30338400-30354000	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:30338400-30360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:30338400-30360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr13:30338600-30357000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr13:30338800-30347400	Weak transcription	Stomach Mucosa	stomach
25	chr13:30339000-30360200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr13:30339000-30364200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr13:30339400-30350800	Weak transcription	Hela-S3	cervix
28	chr13:30339600-30349600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr13:30339800-30346400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr13:30340000-30344200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr13:30340600-30344400	Strong transcription	Primary T cells from cord blood	blood
32	chr13:30341000-30345400	Weak transcription	HSMMtube	muscle
33	chr13:30341000-30347400	Weak transcription	Brain Substantia Nigra	brain
34	chr13:30341200-30346600	Weak transcription	NHLF	lung
35	chr13:30341200-30373200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:30341400-30347800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr13:30341400-30348600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:30341400-30348600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr13:30341400-30349600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:30341400-30352200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr13:30341400-30360200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr13:30341600-30346000	Weak transcription	Fetal Muscle Leg	muscle
43	chr13:30341600-30347200	Weak transcription	HUVEC	blood vessel
44	chr13:30341600-30349800	Weak transcription	Fetal Lung	lung
45	chr13:30341600-30353000	Weak transcription	Fetal Intestine Large	intestine
46	chr13:30341600-30356800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr13:30341600-30357200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr13:30341600-30360200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr13:30341800-30344000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr13:30341800-30345200	Weak transcription	Rectal Mucosa Donor 31	rectum

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