Variant report

Variant	rs8024393
Chromosome Location	chr15:50352887-50352888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50331487..50333450-chr15:50352450..50354634,2	K562	blood:
2	chr15:50346066..50347875-chr15:50350812..50353705,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13380264	1.00[CEU][hapmap]
rs1549521	1.00[TSI][hapmap]
rs16963517	1.00[TSI][hapmap]
rs2073440	1.00[TSI][hapmap]
rs2413998	1.00[CEU][hapmap]
rs28450157	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28510642	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2899447	1.00[CEU][hapmap]
rs7170142	1.00[CEU][hapmap]
rs7172725	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175148	1.00[CEU][hapmap]
rs74012874	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74012875	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74012878	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904207	chr15:50290295-50352945	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50344200-50356600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr15:50348200-50359800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:50348600-50358600	Weak transcription	Fetal Intestine Large	intestine
4	chr15:50350000-50353400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr15:50350800-50353400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr15:50350800-50354600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:50351000-50358400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:50351400-50353400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:50351600-50353400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr15:50351600-50354200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:50351800-50353200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr15:50351800-50353400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr15:50352000-50358400	Weak transcription	Fetal Intestine Small	intestine
14	chr15:50352000-50358600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr15:50352000-50358600	Weak transcription	Small Intestine	intestine
16	chr15:50352200-50357000	Weak transcription	Colon Smooth Muscle	Colon
17	chr15:50352400-50353000	Enhancers	Primary hematopoietic stem cells	blood
18	chr15:50352400-50353200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:50352400-50353200	Enhancers	NHDF-Ad	bronchial
20	chr15:50352400-50359400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:50352600-50353200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr15:50352600-50354000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:50352600-50354600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr15:50352600-50356400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:50352800-50353000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr15:50352800-50353200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:50352800-50353200	Enhancers	Monocytes-CD14+_RO01746	blood

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