Variant report

Variant	rs28431073
Chromosome Location	chr15:75107637-75107638
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr15:75107255-75108063	SK-N-SH	brain:	n/a	chr15:75107620-75107630 chr15:75107742-75107758
2	GATA3	chr15:75107465-75107835	T-47D	breast:	n/a	n/a
3	RCOR1	chr15:75107613-75108191	Hela-S3	cervix:	n/a	n/a
4	ESR1	chr15:75107473-75107789	T-47D	breast:	n/a	n/a
5	NFIC	chr15:75107402-75107922	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr15:75107387-75107847	T-47D	breast:	n/a	chr15:75107620-75107630 chr15:75107742-75107758
7	FOXA1	chr15:75107458-75107739	T-47D	breast:	n/a	n/a
8	ESR1	chr15:75107482-75107776	T-47D	breast:	n/a	n/a
9	EP300	chr15:75107451-75107845	T-47D	breast:	n/a	chr15:75107620-75107630 chr15:75107742-75107758

No.	Distal block	Cell Line	Cell type
1	chr15:75074156..75079604-chr15:75107384..75112501,9	MCF-7	breast:
2	chr15:75090919..75095080-chr15:75105772..75108722,6	MCF-7	breast:
3	chr15:75106165..75113668-chr15:75132311..75136608,10	MCF-7	breast:
4	chr15:75080218..75087203-chr15:75106250..75113071,13	MCF-7	breast:
5	chr15:75105168..75109047-chr15:75134120..75137766,4	K562	blood:

Variant related genes	Relation type
ENSG00000261606	TF binding region
LMAN1L	TF binding region
ENSG00000103653	Chromatin interaction
ENSG00000264386	Chromatin interaction
ENSG00000140474	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12439525	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12439944	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12441444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12443172	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12593251	0.89[ASN][1000 genomes]
rs12594158	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531162	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1531163	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16972714	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2229730	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28397782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28577988	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28583379	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2899827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3743486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743487	0.84[EUR][1000 genomes]
rs3803568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886409	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4886620	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886627	0.84[AMR][1000 genomes]
rs8039046	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9796628	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75096000-75109000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr15:75096200-75109600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:75096800-75109000	Weak transcription	Fetal Intestine Large	intestine
4	chr15:75096800-75109200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr15:75096800-75109400	Weak transcription	HUVEC	blood vessel
6	chr15:75096800-75109800	Weak transcription	NH-A	brain
7	chr15:75097000-75109200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:75097000-75109400	Weak transcription	Brain Anterior Caudate	brain
9	chr15:75097200-75108000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr15:75097200-75109400	Weak transcription	Lung	lung
11	chr15:75097600-75108600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:75097600-75111000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:75097800-75107800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:75097800-75109200	Weak transcription	Brain Germinal Matrix	brain
15	chr15:75100800-75107800	Weak transcription	GM12878-XiMat	blood
16	chr15:75101200-75109000	Weak transcription	HMEC	breast
17	chr15:75101800-75109200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr15:75101800-75113200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr15:75102000-75108800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr15:75102600-75109600	Weak transcription	NHLF	lung
21	chr15:75105400-75108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:75107000-75108600	Enhancers	Hela-S3	cervix
23	chr15:75107000-75112200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr15:75107200-75107800	Enhancers	Fetal Lung	lung
25	chr15:75107200-75107800	Enhancers	Left Ventricle	heart
26	chr15:75107200-75107800	Enhancers	A549	lung
27	chr15:75107200-75108000	Enhancers	Liver	Liver
28	chr15:75107200-75108000	Enhancers	Duodenum Mucosa	Duodenum
29	chr15:75107200-75108000	Enhancers	Pancreas	Pancrea
30	chr15:75107200-75108000	Enhancers	Right Atrium	heart
31	chr15:75107200-75108000	Enhancers	Stomach Smooth Muscle	stomach
32	chr15:75107200-75108200	Enhancers	Fetal Heart	heart
33	chr15:75107200-75108200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr15:75107200-75108200	Enhancers	Stomach Mucosa	stomach
35	chr15:75107200-75108400	Enhancers	Gastric	stomach
36	chr15:75107200-75108400	Enhancers	Rectal Smooth Muscle	rectum
37	chr15:75107200-75108400	Enhancers	Right Ventricle	heart
38	chr15:75107200-75108600	Enhancers	Spleen	Spleen
39	chr15:75107200-75108800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr15:75107200-75109000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:75107200-75109600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr15:75107200-75110000	Enhancers	Colon Smooth Muscle	Colon
43	chr15:75107200-75111200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr15:75107200-75111400	Enhancers	Esophagus	oesophagus
45	chr15:75107200-75111800	Enhancers	Colonic Mucosa	Colon
46	chr15:75107200-75112400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr15:75107200-75114400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:75107400-75107800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:75107400-75107800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:75107400-75107800	Enhancers	Fetal Brain Male	brain

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