Variant report

Variant	rs2229730
Chromosome Location	chr15:75093389-75093390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:75093328-75093549	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:75090055-75093409	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:75093130-75093542	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:75090180-75093445	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:75089967-75094280	GM12892	blood:	n/a	n/a
6	POLR2A	chr15:75093373-75094433	GM18505	blood:	n/a	n/a
7	POLR2A	chr15:75089848-75095044	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:75093028-75093537	GM12892	blood:	n/a	n/a
9	POLR2A	chr15:75090169-75094342	HL-60	blood:	n/a	n/a
10	STAT5A	chr15:75093092-75093391	GM12878	blood:	n/a	chr15:75093277-75093289

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75091765..75094357-chr15:75191183..75194158,2	MCF-7	breast:
2	chr15:75091213..75094124-chr15:75128179..75130318,2	K562	blood:
3	chr15:75090885..75095958-chr15:75228068..75231576,5	K562	blood:
4	chr15:75074533..75077222-chr15:75090764..75094129,5	MCF-7	breast:
5	chr15:75072261..75077453-chr15:75091040..75094267,5	K562	blood:
6	chr15:75090919..75095080-chr15:75105772..75108722,6	MCF-7	breast:
7	chr15:74927215..74928529-chr15:75092139..75093409,7	K562	blood:
8	chr15:75079725..75083728-chr15:75089989..75095483,10	MCF-7	breast:
9	chr15:75092442..75093966-chr15:75229581..75231570,2	MCF-7	breast:
10	chr15:75090900..75093717-chr15:75134239..75137508,3	MCF-7	breast:

No data

Variant related genes	Relation type
CSK	TF binding region
ENSG00000178741	Chromatin interaction
ENSG00000179151	Chromatin interaction
ENSG00000264386	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000260824	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000103653	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12438333	1.00[CEU][hapmap]
rs12439525	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12439944	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12441444	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12443172	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12593251	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs12594158	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1531162	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1531163	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16972714	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2305667	0.82[CEU][hapmap];0.82[GIH][hapmap]
rs28397782	0.84[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28431073	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28577988	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28583379	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2899827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743484	0.81[JPT][hapmap]
rs3743486	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3743487	1.00[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap]
rs3803568	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886409	0.84[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4886620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886627	0.84[AMR][1000 genomes]
rs7163332	0.86[TSI][hapmap]
rs7165811	1.00[CEU][hapmap];0.86[TSI][hapmap]
rs8039046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9796628	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75079400-75093800	Weak transcription	Aorta	Aorta
2	chr15:75082400-75098400	Weak transcription	Fetal Kidney	kidney
3	chr15:75083200-75093600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr15:75084400-75094600	Weak transcription	HSMMtube	muscle
5	chr15:75086000-75093600	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr15:75086000-75093800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:75086000-75094200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr15:75086000-75107400	Weak transcription	Fetal Brain Male	brain
9	chr15:75086200-75093600	Weak transcription	HSMM	muscle
10	chr15:75086200-75093800	Weak transcription	Small Intestine	intestine
11	chr15:75086200-75098000	Strong transcription	Fetal Stomach	stomach
12	chr15:75087000-75093400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:75087200-75100200	Weak transcription	Right Atrium	heart
14	chr15:75088600-75093600	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr15:75088800-75093800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr15:75089400-75097600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:75089800-75093600	Genic enhancers	Monocytes-CD14+_RO01746	blood
18	chr15:75089800-75097200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:75090000-75097200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:75090000-75097600	Strong transcription	Thymus	Thymus
21	chr15:75090000-75097800	Strong transcription	Brain Germinal Matrix	brain
22	chr15:75090200-75093400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:75090200-75093400	Genic enhancers	Duodenum Mucosa	Duodenum
24	chr15:75090200-75094000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:75090200-75096800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:75090400-75093600	Genic enhancers	Rectal Mucosa Donor 31	rectum
27	chr15:75090400-75096600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:75090400-75096600	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr15:75090400-75096800	Strong transcription	Rectal Smooth Muscle	rectum
30	chr15:75090400-75097000	Strong transcription	Dnd41	blood
31	chr15:75090400-75097600	Strong transcription	Fetal Brain Female	brain
32	chr15:75090600-75095000	Strong transcription	Fetal Lung	lung
33	chr15:75090600-75097000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr15:75090600-75097600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:75090800-75096800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:75091000-75094000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:75091000-75097000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:75091200-75097600	Weak transcription	Psoas Muscle	Psoas
39	chr15:75091400-75093600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:75091400-75097800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:75091600-75093400	Genic enhancers	Liver	Liver
42	chr15:75091800-75097800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:75092000-75093600	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr15:75092000-75094600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:75092000-75095800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:75092000-75096600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:75092400-75093400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
48	chr15:75092400-75093600	Genic enhancers	Rectal Mucosa Donor 29	rectum
49	chr15:75092400-75097800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:75092600-75093400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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