Variant report

Variant	rs72848651
Chromosome Location	chr2:128172616-128172617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:128172561-128172862	HepG2	liver:	n/a	n/a
2	HDAC2	chr2:128172290-128172953	HepG2	liver:	n/a	n/a
3	EP300	chr2:128172436-128172959	HepG2	liver:	n/a	n/a
4	RXRA	chr2:128172566-128173016	HepG2	liver:	n/a	chr2:128172768-128172784
5	NR2F2	chr2:128172403-128173106	HepG2	liver:	n/a	n/a
6	NFIC	chr2:128172260-128172931	HepG2	liver:	n/a	n/a
7	BRCA1	chr2:128172526-128172697	HepG2	liver:	n/a	n/a
8	MAFF	chr2:128172530-128172730	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:128172547-128172799	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:128172545-128172809	HepG2	liver:	n/a	n/a
11	RCOR1	chr2:128172581-128172799	HepG2	liver:	n/a	n/a
12	MAX	chr2:128172503-128172689	HepG2	liver:	n/a	n/a
13	EP300	chr2:128172386-128172983	HepG2	liver:	n/a	n/a
14	MYBL2	chr2:128172345-128173125	HepG2	liver:	n/a	n/a
15	CHD2	chr2:128172551-128172755	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:128172437-128172842	HepG2	liver:	n/a	n/a
17	CTCF	chr2:128172500-128172650	HepG2	liver:	n/a	n/a
18	SMC3	chr2:128172553-128172780	HepG2	liver:	n/a	n/a
19	MBD4	chr2:128172018-128172999	HepG2	liver:	n/a	n/a
20	MAZ	chr2:128172545-128172921	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128142687..128147811-chr2:128164209..128172701,12	MCF-7	breast:
2	chr2:128171833..128175442-chr2:128179888..128182308,3	MCF-7	breast:
3	chr2:128172111..128174190-chr2:128184627..128187597,2	MCF-7	breast:

No data

Variant related genes	Relation type
PROC	TF binding region
ENSG00000264075	Chromatin interaction
ENSG00000236682	Chromatin interaction
ENSG00000115718	Chromatin interaction
ENSG00000169967	Chromatin interaction

rs_ID	r²[population]
rs2069892	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069907	1.00[EUR][1000 genomes]
rs2069934	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069939	1.00[EUR][1000 genomes]
rs55871356	0.83[EUR][1000 genomes]
rs56033800	0.83[EUR][1000 genomes]
rs72845961	0.81[EUR][1000 genomes]
rs72848605	0.83[EUR][1000 genomes]
rs72848607	0.83[EUR][1000 genomes]
rs72848610	0.81[EUR][1000 genomes]
rs72848614	0.83[EUR][1000 genomes]
rs72848617	0.83[EUR][1000 genomes]
rs72848619	0.83[EUR][1000 genomes]
rs72848621	0.83[EUR][1000 genomes]
rs72848623	0.83[EUR][1000 genomes]
rs72848624	0.83[EUR][1000 genomes]
rs72848625	0.83[EUR][1000 genomes]
rs72848626	0.83[EUR][1000 genomes]
rs72848627	0.83[EUR][1000 genomes]
rs72848628	0.83[EUR][1000 genomes]
rs72848629	0.83[EUR][1000 genomes]
rs72848630	0.83[EUR][1000 genomes]
rs72848635	0.83[EUR][1000 genomes]
rs72848637	0.87[EUR][1000 genomes]
rs72848642	0.87[EUR][1000 genomes]
rs72848645	1.00[EUR][1000 genomes]
rs72848646	1.00[EUR][1000 genomes]
rs72848648	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7591718	1.00[EUR][1000 genomes]
rs7599334	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8179521	0.87[EUR][1000 genomes]

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128166200-128173400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:128166400-128173200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:128166400-128173400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:128166400-128173400	Weak transcription	Esophagus	oesophagus
5	chr2:128166400-128173400	Weak transcription	Ovary	ovary
6	chr2:128166600-128173000	Weak transcription	Small Intestine	intestine
7	chr2:128166600-128173200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:128166600-128173200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:128166600-128173400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:128166800-128173000	Weak transcription	Fetal Intestine Large	intestine
11	chr2:128166800-128173200	Weak transcription	Colonic Mucosa	Colon
12	chr2:128166800-128173400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:128167400-128173400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:128168000-128173400	Weak transcription	Right Atrium	heart
15	chr2:128169000-128173200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:128169000-128173200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:128169000-128173400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:128169200-128173200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:128169200-128173200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:128169200-128173200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:128169200-128173200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:128169200-128173400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:128169400-128173200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:128169400-128173200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:128169400-128173200	Weak transcription	Brain Angular Gyrus	brain
26	chr2:128169400-128173200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:128169400-128173400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:128169600-128173200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:128169600-128173200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:128169600-128173200	Weak transcription	Fetal Intestine Small	intestine
31	chr2:128169600-128173400	Weak transcription	Psoas Muscle	Psoas
32	chr2:128169800-128172800	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:128169800-128172800	Weak transcription	Fetal Lung	lung
34	chr2:128169800-128173000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:128169800-128173200	Weak transcription	GM12878-XiMat	blood
36	chr2:128169800-128173400	Weak transcription	Fetal Kidney	kidney
37	chr2:128170000-128173000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:128170200-128173200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:128170200-128173200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr2:128170200-128173800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:128170800-128172800	Enhancers	NHDF-Ad	bronchial
42	chr2:128171000-128173200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:128171000-128173400	Enhancers	NH-A	brain
44	chr2:128171200-128172800	Enhancers	Osteobl	bone
45	chr2:128171200-128173000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:128171200-128173200	Enhancers	Liver	Liver
47	chr2:128171200-128173200	Enhancers	HMEC	breast
48	chr2:128171200-128173400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr2:128171200-128173400	Enhancers	Stomach Mucosa	stomach
50	chr2:128171200-128174200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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