Variant report

Variant	rs13233863
Chromosome Location	chr7:129246699-129246700
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	POLR2A	chr7:129246554-129246721	HUVEC	blood vessel:	n/a	n/a
2	MXI1	chr7:129246668-129246956	GM12878	blood:	n/a	chr7:129246814-129246823
3	SPI1	chr7:129246542-129247420	HL-60	blood:	n/a	chr7:129246864-129246877 chr7:129246864-129246877
4	POLR2A	chr7:129246460-129247195	HepG2	liver:	n/a	n/a
5	SPI1	chr7:129246667-129247082	HL-60	blood:	n/a	chr7:129246864-129246877 chr7:129246864-129246877
6	USF2	chr7:129246673-129246978	GM12878	blood:	n/a	n/a
7	SPI1	chr7:129246686-129247065	GM12891	blood:	n/a	chr7:129246864-129246877 chr7:129246864-129246877
8	POLR2A	chr7:129244092-129247081	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:129246635-129246946	HCT-116	colon:	n/a	n/a
10	POLR2A	chr7:129246626-129247209	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr7:129246614-129246951	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:129244083-129246959	PBDE	blood:	n/a	n/a
13	POLR2A	chr7:129246571-129246935	GM12891	blood:	n/a	n/a
14	POLR2A	chr7:129243716-129247444	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr7:129244215-129249497	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:129244411-129247048	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr7:129246494-129246940	K562	blood:	n/a	n/a
18	SPI1	chr7:129246449-129247251	GM12878	blood:	n/a	chr7:129246864-129246877 chr7:129246864-129246877
19	POLR2A	chr7:129244487-129246983	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr7:129244026-129247926	K562	blood:	n/a	n/a
21	POLR2A	chr7:129244456-129248067	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr7:129244066-129247805	GM12891	blood:	n/a	n/a
23	POLR2A	chr7:129246591-129247310	SK-N-SH	brain:	n/a	n/a
24	JUND	chr7:129245682-129246715	SK-N-SH	brain:	n/a	chr7:129246235-129246244 chr7:129246234-129246245 chr7:129246237-129246244
25	POLR2A	chr7:129246664-129247051	HepG2	liver:	n/a	n/a
26	BCLAF1	chr7:129246568-129247085	GM12878	blood:	n/a	chr7:129246884-129246893
27	POLR2A	chr7:129246458-129246941	GM12891	blood:	n/a	n/a
28	POLR2A	chr7:129243611-129247103	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr7:129246500-129246931	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr7:129246669-129247296	A549	lung:	n/a	n/a
31	POLR2A	chr7:129246485-129247059	HL-60	blood:	n/a	n/a
32	POLR2A	chr7:129246309-129246943	K562	blood:	n/a	n/a
33	POLR2A	chr7:129246508-129246906	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr7:129245568-129247011	GM12892	blood:	n/a	n/a
35	POLR2A	chr7:129246581-129246926	K562	blood:	n/a	n/a
36	MAX	chr7:129246595-129246980	K562	blood:	n/a	chr7:129246811-129246824 chr7:129246813-129246822 chr7:129246816-129246824 chr7:129246813-129246820 chr7:129246812-129246821 chr7:129246811-129246824 chr7:129246812-129246822 chr7:129246812-129246823
37	MTA3	chr7:129246494-129247430	GM12878	blood:	n/a	n/a
38	MAX	chr7:129246659-129246923	GM12878	blood:	n/a	chr7:129246811-129246824 chr7:129246813-129246822 chr7:129246816-129246824 chr7:129246813-129246820 chr7:129246812-129246821 chr7:129246811-129246824 chr7:129246812-129246822 chr7:129246812-129246823

No.	Distal block	Cell Line	Cell type
1	chr7:129149565..129151781-chr7:129245619..129248568,2	K562	blood:
2	chr7:129225250..129227766-chr7:129244638..129247298,2	MCF-7	breast:
3	chr7:129111736..129113508-chr7:129245423..129247398,2	MCF-7	breast:
4	chr7:129140962..129143945-chr7:129243314..129247330,3	MCF-7	breast:
5	chr7:129244786..129248579-chr7:129273930..129277174,4	MCF-7	breast:
6	chr7:129228492..129230780-chr7:129245998..129248645,2	K562	blood:
7	chr7:129244640..129247034-chr7:129428547..129431253,2	K562	blood:
8	chr7:129075026..129076715-chr7:129245649..129248205,2	K562	blood:
9	chr7:129234956..129236519-chr7:129244483..129247189,2	K562	blood:
10	chr7:129193932..129195991-chr7:129245048..129247026,2	K562	blood:
11	chr7:129237193..129242343-chr7:129243851..129248345,9	K562	blood:
12	chr7:129237193..129241667-chr7:129245468..129247836,5	K562	blood:
13	chr7:129225688..129227464-chr7:129245609..129247356,2	K562	blood:
14	chr7:129228621..129230780-chr7:129244504..129247498,2	K562	blood:
15	chr7:129166809..129169289-chr7:129245985..129248526,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2H-2	chr7:129242678-129251482	NONHSAT123298
2	lnc-UBE2H-2	chr7:129244389-129251471	ENSG00000273329.1
3	lnc-UBE2H-2	chr7:129246527-129247074	XLOC_006604

Variant related genes	Relation type
NRF1	TF binding region
ENSG00000240204	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11771609	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12154955	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12531460	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706898	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1665111	0.81[ASN][1000 genomes]
rs62490955	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6963433	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6965820	0.81[ASN][1000 genomes]
rs6978476	0.80[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129232600-129246800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:129233400-129247400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:129235200-129249000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:129235200-129249800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:129235200-129250200	Weak transcription	Right Atrium	heart
6	chr7:129236000-129249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:129237000-129248800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:129237000-129249800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:129238200-129248200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:129238800-129250400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:129240200-129250400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:129241400-129247200	Weak transcription	Fetal Thymus	thymus
13	chr7:129242800-129250400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:129243000-129248200	Weak transcription	Fetal Kidney	kidney
15	chr7:129243800-129250200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:129244600-129248400	Weak transcription	Fetal Lung	lung
17	chr7:129244600-129249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:129244800-129247200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:129244800-129250000	Weak transcription	Fetal Brain Female	brain
20	chr7:129244800-129250400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:129245000-129248400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:129245000-129248400	Weak transcription	Ovary	ovary
23	chr7:129245000-129248400	Weak transcription	Thymus	Thymus
24	chr7:129245000-129249600	Weak transcription	NH-A	brain
25	chr7:129245000-129249800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:129245000-129250400	Weak transcription	Stomach Mucosa	stomach
27	chr7:129245200-129246800	Weak transcription	Dnd41	blood
28	chr7:129245200-129247000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:129245200-129247200	Weak transcription	Liver	Liver
30	chr7:129245200-129249000	Weak transcription	Lung	lung
31	chr7:129245200-129249800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:129245200-129250400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:129245200-129250600	Weak transcription	Esophagus	oesophagus
34	chr7:129245400-129249000	Weak transcription	Pancreas	Pancrea
35	chr7:129245400-129250600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:129245600-129246800	Enhancers	Primary B cells from cord blood	blood
37	chr7:129245600-129247800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr7:129245600-129248000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr7:129245600-129248400	Weak transcription	Brain Germinal Matrix	brain
40	chr7:129245600-129249400	Weak transcription	Spleen	Spleen
41	chr7:129245600-129250200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:129245600-129250200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:129245600-129250200	Weak transcription	HUVEC	blood vessel
44	chr7:129245600-129250600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:129245800-129247600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:129245800-129247800	Enhancers	Primary B cells from peripheral blood	blood
47	chr7:129245800-129247800	Enhancers	Primary hematopoietic stem cells	blood
48	chr7:129245800-129248000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:129245800-129249400	Strong transcription	A549	lung
50	chr7:129245800-129250200	Weak transcription	Rectal Mucosa Donor 29	rectum

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