Variant report

Variant	rs2118958
Chromosome Location	chr15:40634831-40634832
allele	A/G
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	FOS	chr15:40634629-40635026	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr15:40634666-40634962	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr15:40634830-40634847	GM13976	blood:	n/a	n/a
4	FOS	chr15:40634648-40635137	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXA1	chr15:40634801-40635234	T-47D	breast:	n/a	n/a
6	GATA3	chr15:40634737-40635140	T-47D	breast:	n/a	n/a
7	FOXA1	chr15:40634789-40635135	T-47D	breast:	n/a	n/a
8	STAT3	chr15:40634709-40635177	MCF10A-Er-Src	breast:	n/a	chr15:40635118-40635129
9	GATA3	chr15:40634771-40635118	T-47D	breast:	n/a	n/a
10	RCOR1	chr15:40634368-40637165	IMR90	lung:	n/a	n/a
11	EP300	chr15:40634703-40635283	T-47D	breast:	n/a	n/a
12	FOS	chr15:40634656-40634976	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr15:40634652-40634983	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr15:40634655-40634962	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr15:40634672-40636307	HUVEC	blood vessel:	n/a	chr15:40635890-40635901 chr15:40635888-40635899 chr15:40635772-40635786
16	RFX5	chr15:40634386-40637249	IMR90	lung:	n/a	n/a
17	MYC	chr15:40634669-40634918	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40614221..40619136-chr15:40629898..40635011,9	K562	blood:
2	chr15:40632962..40635385-chr15:40697134..40699617,2	MCF-7	breast:

Variant related genes	Relation type
C15orf52	TF binding region
ENSG00000128928	Chromatin interaction
ENSG00000259330	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10163076	0.81[ASN][1000 genomes]
rs10163093	0.84[ASN][1000 genomes]
rs34567466	0.86[AFR][1000 genomes];0.92[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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2118958	IVD	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40621000-40637600	Enhancers	Fetal Heart	heart
2	chr15:40625800-40642800	Enhancers	Fetal Intestine Large	intestine
3	chr15:40629400-40637200	Enhancers	Fetal Lung	lung
4	chr15:40630400-40635400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:40630600-40636600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr15:40632200-40635200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr15:40632800-40635000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:40632800-40637000	Weak transcription	Fetal Thymus	thymus
9	chr15:40633000-40636400	Enhancers	Right Atrium	heart
10	chr15:40633000-40637200	Enhancers	Fetal Muscle Leg	muscle
11	chr15:40633000-40637400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:40633000-40637400	Enhancers	NHDF-Ad	bronchial
13	chr15:40633000-40638800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:40633000-40640600	Enhancers	Fetal Intestine Small	intestine
15	chr15:40633200-40635800	Enhancers	Left Ventricle	heart
16	chr15:40633200-40637400	Enhancers	Right Ventricle	heart
17	chr15:40633200-40637400	Enhancers	HMEC	breast
18	chr15:40633200-40637400	Enhancers	NHEK	skin
19	chr15:40633200-40637400	Enhancers	NHLF	lung
20	chr15:40633200-40637600	Enhancers	HUVEC	blood vessel
21	chr15:40633200-40639400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:40633200-40641600	Enhancers	Esophagus	oesophagus
23	chr15:40633400-40635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:40633400-40636600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:40633400-40636600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:40633400-40637000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:40633400-40637000	Weak transcription	Small Intestine	intestine
28	chr15:40633400-40637200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:40633400-40637800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:40633600-40635000	Weak transcription	Fetal Stomach	stomach
31	chr15:40633600-40635000	Weak transcription	Lung	lung
32	chr15:40633600-40635000	Weak transcription	Psoas Muscle	Psoas
33	chr15:40633600-40635000	Weak transcription	K562	blood
34	chr15:40633600-40635200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr15:40633600-40635200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:40633600-40635200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:40633600-40635200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:40633600-40635200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:40633600-40635200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr15:40633600-40635200	Weak transcription	Placenta	Placenta
41	chr15:40633600-40635200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr15:40633600-40635200	Enhancers	Rectal Smooth Muscle	rectum
43	chr15:40633600-40635400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:40633600-40635400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:40633600-40635800	Enhancers	Stomach Smooth Muscle	stomach
46	chr15:40633600-40636600	Weak transcription	Ovary	ovary
47	chr15:40633600-40636600	Weak transcription	Pancreas	Pancrea
48	chr15:40633600-40637200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr15:40633600-40637200	Enhancers	Osteobl	bone
50	chr15:40633600-40642800	Enhancers	Stomach Mucosa	stomach

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