Variant report

Variant	rs6151591
Chromosome Location	chr15:59953949-59953950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:59951368-59954200	K562	blood:	n/a	n/a
2	POLR2A	chr15:59953660-59954017	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:59953943..59955964-chr15:59959254..59962157,2	K562	blood:
2	chr15:59953614..59955530-chr15:59965448..59967216,2	K562	blood:
3	chr15:59953267..59956180-chr15:59978902..59983240,4	K562	blood:
4	chr15:59949015..59951942-chr15:59953463..59956505,3	MCF-7	breast:
5	chr15:59953943..59956937-chr15:59959254..59962353,4	K562	blood:
6	chr15:59947891..59951235-chr15:59952580..59954816,3	K562	blood:
7	chr15:59950702..59954710-chr15:59966700..59968446,3	K562	blood:
8	chr15:59952501..59955288-chr15:59979374..59982018,3	K562	blood:

No data

Variant related genes	Relation type
GTF2A2	TF binding region
ENSG00000259238	Chromatin interaction
ENSG00000140307	Chromatin interaction
ENSG00000140299	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12050786	0.95[EUR][1000 genomes]
rs16941544	0.93[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17236713	0.87[CHB][hapmap];0.87[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17236734	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17302448	0.87[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17302608	0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs28395445	0.95[EUR][1000 genomes]
rs28418513	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28422085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28437066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28642859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28654927	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28883924	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4775192	0.86[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4775193	0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4775198	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6151443	0.82[JPT][hapmap]
rs6151457	0.82[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes]
rs6151492	0.85[EUR][1000 genomes]
rs6151497	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs6151505	0.85[EUR][1000 genomes]
rs6151522	0.95[EUR][1000 genomes]
rs6151534	0.80[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes]
rs6151538	0.95[EUR][1000 genomes]
rs6151540	0.95[EUR][1000 genomes]
rs6151567	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6151575	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7178008	0.84[EUR][1000 genomes]
rs8027421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8033208	0.80[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8033718	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1044442	chr15:59765724-59955587	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv542403	chr15:59765724-59955587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv569605	chr15:59855226-59956553	Strong transcription Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv533240	chr15:59858093-59998176	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv1824522	chr15:59919844-59987181	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv1043693	chr15:59944471-59971500	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59949400-59960200	Weak transcription	Fetal Heart	heart
2	chr15:59949800-59954600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:59949800-59954600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:59949800-59957200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:59949800-59957200	Weak transcription	Spleen	Spleen
6	chr15:59949800-59963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:59949800-59964000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:59949800-59968000	Weak transcription	Stomach Mucosa	stomach
9	chr15:59949800-59968400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:59949800-59980000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:59950000-59963200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:59950200-59954200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:59950200-59954200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:59950200-59954400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr15:59950200-59954400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:59950200-59954400	Weak transcription	NHEK	skin
17	chr15:59950200-59954600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:59950200-59954800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:59950200-59955200	Weak transcription	Fetal Brain Female	brain
20	chr15:59950200-59955400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:59950200-59955600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:59950200-59955800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:59950200-59956800	Weak transcription	Fetal Intestine Small	intestine
24	chr15:59950200-59956800	Weak transcription	Fetal Stomach	stomach
25	chr15:59950200-59956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:59950200-59957000	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:59950200-59958400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:59950200-59959200	Weak transcription	Fetal Brain Male	brain
29	chr15:59950200-59960200	Weak transcription	Colonic Mucosa	Colon
30	chr15:59950200-59961200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:59950200-59963400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr15:59950200-59963400	Weak transcription	Brain Angular Gyrus	brain
33	chr15:59950200-59963400	Weak transcription	Ovary	ovary
34	chr15:59950200-59964000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:59950200-59964000	Weak transcription	Gastric	stomach
36	chr15:59950200-59964000	Weak transcription	Lung	lung
37	chr15:59950200-59964000	Weak transcription	Small Intestine	intestine
38	chr15:59950200-59967800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:59950200-59968400	Weak transcription	Right Ventricle	heart
40	chr15:59950200-59968800	Weak transcription	Aorta	Aorta
41	chr15:59950400-59954000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr15:59950400-59954200	Weak transcription	Colon Smooth Muscle	Colon
43	chr15:59950400-59954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:59950400-59954400	Weak transcription	Brain Germinal Matrix	brain
45	chr15:59950400-59954400	Weak transcription	Fetal Lung	lung
46	chr15:59950400-59954400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr15:59950400-59954600	Weak transcription	Brain Anterior Caudate	brain
48	chr15:59950400-59954600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:59950400-59954800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr15:59950400-59954800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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