Variant report

Variant	rs2229729
Chromosome Location	chr15:75091664-75091665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:75090308-75092006	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:75091511-75091853	K562	blood:	n/a	n/a
3	POLR2A	chr15:75090055-75093409	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:75091412-75091799	K562	blood:	n/a	n/a
5	TCF3	chr15:75091526-75091991	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:75090180-75093445	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:75091631-75091922	GM12891	blood:	n/a	n/a
8	POLR2A	chr15:75091656-75091856	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr15:75089967-75094280	GM12892	blood:	n/a	n/a
10	POLR2A	chr15:75091621-75093031	K562	blood:	n/a	n/a
11	POLR2A	chr15:75091371-75092853	GM12891	blood:	n/a	n/a
12	POLR2A	chr15:75090402-75092814	GM12891	blood:	n/a	n/a
13	POLR2A	chr15:75091207-75092908	GM12892	blood:	n/a	n/a
14	PML	chr15:75091646-75093022	GM12878	blood:	n/a	n/a
15	ZNF263	chr15:75091522-75092791	HEK293-T-REx	kidney:	n/a	n/a
16	POLR2A	chr15:75091417-75091992	GM12891	blood:	n/a	n/a
17	POLR2A	chr15:75091411-75093098	GM18505	blood:	n/a	n/a
18	POLR2A	chr15:75091221-75091963	HepG2	liver:	n/a	n/a
19	POLR2A	chr15:75089866-75092958	GM12892	blood:	n/a	n/a
20	MTA3	chr15:75089924-75092899	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:75091639-75092952	GM18951	blood:	n/a	n/a
22	POLR2A	chr15:75091318-75092989	HL-60	blood:	n/a	n/a
23	POLR2A	chr15:75089848-75095044	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:75090689-75092991	GM12892	blood:	n/a	n/a
25	POLR2A	chr15:75090612-75093063	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:75090169-75094342	HL-60	blood:	n/a	n/a
27	POLR2A	chr15:75090581-75093079	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:75091213..75094124-chr15:75128179..75130318,2	K562	blood:
2	chr15:75088510..75091913-chr15:75102419..75105144,4	K562	blood:
3	chr15:75090773..75092693-chr15:75133525..75135797,3	K562	blood:
4	chr15:75091193..75092930-chr15:75133955..75135797,2	K562	blood:
5	chr15:75090885..75095958-chr15:75228068..75231576,5	K562	blood:
6	chr15:75074533..75077222-chr15:75090764..75094129,5	MCF-7	breast:
7	chr15:75072261..75077453-chr15:75091040..75094267,5	K562	blood:
8	chr15:75090919..75095080-chr15:75105772..75108722,6	MCF-7	breast:
9	chr15:75079725..75083728-chr15:75089989..75095483,10	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
ENSG00000140506	Chromatin interaction
ENSG00000264386	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000178741	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000140474	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10851874	0.86[AFR][1000 genomes]
rs11553760	0.93[AFR][1000 genomes]
rs16972620	0.89[ASN][1000 genomes]
rs16972628	0.91[ASN][1000 genomes]
rs34331219	1.00[AMR][1000 genomes]
rs34458627	1.00[AMR][1000 genomes]
rs35290121	0.91[ASN][1000 genomes]
rs45627134	1.00[AMR][1000 genomes]
rs55726155	1.00[AMR][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	chr15:75077800-75092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:75079400-75093800	Weak transcription	Aorta	Aorta
3	chr15:75081800-75092000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr15:75081800-75092000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:75082200-75092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:75082400-75098400	Weak transcription	Fetal Kidney	kidney
7	chr15:75082600-75093200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:75083000-75092000	Weak transcription	Hela-S3	cervix
9	chr15:75083000-75093000	Weak transcription	HUVEC	blood vessel
10	chr15:75083200-75091800	Weak transcription	A549	lung
11	chr15:75083200-75092400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:75083200-75093600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:75084400-75093200	Genic enhancers	Primary B cells from cord blood	blood
14	chr15:75084400-75094600	Weak transcription	HSMMtube	muscle
15	chr15:75085600-75091800	Weak transcription	NHDF-Ad	bronchial
16	chr15:75085800-75091800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr15:75085800-75091800	Weak transcription	Colon Smooth Muscle	Colon
18	chr15:75085800-75093200	Weak transcription	Ovary	ovary
19	chr15:75086000-75092200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:75086000-75092200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:75086000-75092200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:75086000-75092800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:75086000-75093600	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr15:75086000-75093800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:75086000-75094200	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr15:75086000-75107400	Weak transcription	Fetal Brain Male	brain
27	chr15:75086200-75091800	Weak transcription	Osteobl	bone
28	chr15:75086200-75093200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:75086200-75093200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:75086200-75093600	Weak transcription	HSMM	muscle
31	chr15:75086200-75093800	Weak transcription	Small Intestine	intestine
32	chr15:75086200-75098000	Strong transcription	Fetal Stomach	stomach
33	chr15:75086400-75092000	Weak transcription	NH-A	brain
34	chr15:75086600-75092200	Genic enhancers	GM12878-XiMat	blood
35	chr15:75087000-75092200	Weak transcription	Fetal Heart	heart
36	chr15:75087000-75093400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:75087200-75100200	Weak transcription	Right Atrium	heart
38	chr15:75087400-75093000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:75088600-75093600	Genic enhancers	Primary monocytes fromperipheralblood	blood
40	chr15:75088800-75093800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr15:75089000-75092600	Genic enhancers	Primary T cells from cord blood	blood
42	chr15:75089200-75093200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr15:75089400-75097600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr15:75089800-75093600	Genic enhancers	Monocytes-CD14+_RO01746	blood
45	chr15:75089800-75097200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:75090000-75092000	Genic enhancers	Rectal Mucosa Donor 29	rectum
47	chr15:75090000-75092200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:75090000-75092200	Strong transcription	NHLF	lung
49	chr15:75090000-75092800	Genic enhancers	Spleen	Spleen
50	chr15:75090000-75093000	Genic enhancers	Esophagus	oesophagus

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