Variant report

Variant	rs6493397
Chromosome Location	chr15:50352561-50352562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50349881..50352868-chr15:50355491..50358841,3	MCF-7	breast:
2	chr15:50331487..50333450-chr15:50352450..50354634,2	K562	blood:
3	chr15:50346066..50347875-chr15:50350812..50353705,2	MCF-7	breast:
4	chr15:50332088..50333712-chr15:50350541..50352729,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10851486	1.00[JPT][hapmap]
rs11854435	1.00[JPT][hapmap]
rs13380264	1.00[JPT][hapmap]
rs28579120	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2899447	1.00[JPT][hapmap]
rs4356419	1.00[JPT][hapmap]
rs57531448	0.81[ASN][1000 genomes]
rs6493396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7165755	1.00[JPT][hapmap]
rs7167956	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7170142	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs7175148	1.00[JPT][hapmap]
rs7178403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8025172	1.00[JPT][hapmap]
rs935197	1.00[JPT][hapmap]

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:34 , 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	chr15:50351400-50352800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr15:50351400-50353400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:50351600-50352600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr15:50351600-50352800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:50351600-50353400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr15:50351600-50354200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:50351800-50352600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr15:50351800-50352800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr15:50351800-50352800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr15:50351800-50353200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr15:50351800-50353400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr15:50352000-50352600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:50352000-50352600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr15:50352000-50352600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr15:50352000-50358400	Weak transcription	Fetal Intestine Small	intestine
23	chr15:50352000-50358600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:50352000-50358600	Weak transcription	Small Intestine	intestine
25	chr15:50352200-50357000	Weak transcription	Colon Smooth Muscle	Colon
26	chr15:50352400-50352600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:50352400-50352600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:50352400-50352600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:50352400-50352600	Active TSS	Stomach Smooth Muscle	stomach
30	chr15:50352400-50352600	Flanking Active TSS	Osteobl	bone
31	chr15:50352400-50353000	Enhancers	Primary hematopoietic stem cells	blood
32	chr15:50352400-50353200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:50352400-50353200	Enhancers	NHDF-Ad	bronchial
34	chr15:50352400-50359400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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