Variant report

Variant	rs2290346
Chromosome Location	chr15:74163276-74163277
allele	C/T
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	GATA1	chr15:74163152-74164040	K562	blood:	n/a	n/a
2	CTCF	chr15:74163180-74163330	AoAF	blood vessel:	n/a	n/a
3	CTCF	chr15:74163200-74163350	GM12864	blood:	n/a	n/a
4	CTCF	chr15:74163200-74163350	HCM	heart:	n/a	n/a
5	NR3C1	chr15:74163254-74163636	A549	lung:	n/a	n/a
6	GATA2	chr15:74163163-74163930	HUVEC	blood vessel:	n/a	chr15:74163598-74163612
7	CTCF	chr15:74163160-74163310	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr15:74163080-74163310	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr15:74163180-74163330	HEK293	kidney:	n/a	n/a
10	NR3C1	chr15:74163258-74163719	A549	lung:	n/a	n/a
11	CTCF	chr15:74163180-74163330	HCFaa	heart:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74138773..74141661-chr15:74162026..74163857,2	MCF-7	breast:

Variant related genes	Relation type
TBC1D21	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11855607	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs16958297	0.85[JPT][hapmap]
rs16958382	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16958390	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16958415	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16958445	0.88[GIH][hapmap]
rs1869177	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2084851	0.94[CHB][hapmap]
rs3935254	0.80[ASN][1000 genomes]
rs4445847	0.94[CHB][hapmap]
rs4528522	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57180956	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58309771	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58443873	1.00[EUR][1000 genomes]
rs58594871	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59778825	0.90[ASN][1000 genomes]
rs60302365	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60541198	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60856646	0.90[ASN][1000 genomes]
rs61661320	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7170291	0.87[CHB][hapmap]
rs7178137	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7178413	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7179621	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7179978	1.00[CHB][hapmap]
rs744619	0.90[ASN][1000 genomes]
rs878322	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043335	chr15:74078689-74241186	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74154800-74167000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:74158600-74164600	Enhancers	Right Atrium	heart
3	chr15:74160000-74163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:74161400-74163400	Weak transcription	Ovary	ovary
5	chr15:74161600-74163800	Enhancers	Left Ventricle	heart
6	chr15:74161600-74164600	Enhancers	Right Ventricle	heart
7	chr15:74162600-74164600	Enhancers	Fetal Intestine Large	intestine
8	chr15:74162600-74164800	Enhancers	Fetal Intestine Small	intestine
9	chr15:74163000-74163400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:74163000-74164600	Enhancers	Stomach Mucosa	stomach
11	chr15:74163000-74164600	Enhancers	Thymus	Thymus
12	chr15:74163200-74163400	Bivalent Enhancer	NHDF-Ad	bronchial
13	chr15:74163200-74163600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:74163200-74163600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:74163200-74163600	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr15:74163200-74163600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr15:74163200-74163600	Enhancers	Lung	lung
18	chr15:74163200-74163600	Enhancers	Spleen	Spleen
19	chr15:74163200-74163600	Bivalent Enhancer	NH-A	brain
20	chr15:74163200-74163800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:74163200-74163800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:74163200-74163800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:74163200-74163800	Enhancers	Fetal Thymus	thymus
24	chr15:74163200-74163800	Enhancers	Pancreas	Pancrea
25	chr15:74163200-74163800	Enhancers	HUVEC	blood vessel
26	chr15:74163200-74164000	Enhancers	K562	blood
27	chr15:74163200-74164400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr15:74163200-74164400	Enhancers	Fetal Heart	heart
29	chr15:74163200-74164800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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