Variant report

Variant	rs7997510
Chromosome Location	chr13:52023533-52023534
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	MAFF	chr13:52023153-52023533	K562	blood:	n/a	chr13:52023338-52023356 chr13:52023344-52023358
2	POLR2A	chr13:52023042-52028956	GM12878	blood:	n/a	n/a
3	MAFK	chr13:52023171-52023534	Hela-S3	cervix:	n/a	chr13:52023345-52023354 chr13:52023344-52023358 chr13:52023343-52023359 chr13:52023348-52023357 chr13:52023341-52023361 chr13:52023340-52023355 chr13:52023345-52023355
4	POLR2A	chr13:52023265-52023844	GM12892	blood:	n/a	n/a
5	POLR2A	chr13:52023259-52023762	GM12878	blood:	n/a	n/a
6	POLR2A	chr13:52023016-52023635	HepG2	liver:	n/a	n/a
7	POLR2A	chr13:52022995-52025001	HepG2	liver:	n/a	n/a
8	MAFK	chr13:52022985-52023658	IMR90	lung:	n/a	chr13:52023345-52023354 chr13:52023344-52023358 chr13:52023343-52023359 chr13:52023348-52023357 chr13:52023341-52023361 chr13:52023340-52023355 chr13:52023345-52023355
9	POLR2A	chr13:52023291-52023541	SK-N-SH	brain:	n/a	n/a
10	MAFF	chr13:52023166-52023550	HepG2	liver:	n/a	chr13:52023338-52023356 chr13:52023344-52023358
11	MAFK	chr13:52023213-52023575	H1-hESC	embryonic stem cell:	n/a	chr13:52023345-52023354 chr13:52023344-52023358 chr13:52023343-52023359 chr13:52023348-52023357 chr13:52023341-52023361 chr13:52023340-52023355 chr13:52023345-52023355
12	MAFK	chr13:52022956-52023536	HepG2	liver:	n/a	chr13:52023345-52023354 chr13:52023344-52023358 chr13:52023343-52023359 chr13:52023348-52023357 chr13:52023341-52023361 chr13:52023340-52023355 chr13:52023345-52023355
13	MAFK	chr13:52023160-52023535	K562	blood:	n/a	chr13:52023345-52023354 chr13:52023344-52023358 chr13:52023343-52023359 chr13:52023348-52023357 chr13:52023341-52023361 chr13:52023340-52023355 chr13:52023345-52023355
14	POLR2A	chr13:52022043-52024987	K562	blood:	n/a	n/a
15	POLR2A	chr13:52022607-52024992	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr13:52023240-52023660	GM12892	blood:	n/a	n/a
17	POLR2A	chr13:52022978-52024990	HepG2	liver:	n/a	n/a
18	POLR2A	chr13:52023470-52023732	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr13:52023265-52023674	GM12891	blood:	n/a	n/a
20	POLR2A	chr13:52022300-52029025	GM12878	blood:	n/a	n/a
21	POLR2A	chr13:52023183-52023794	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr13:52023377-52029022	IMR90	lung:	n/a	n/a
23	POLR2A	chr13:52023224-52023752	SK-N-MC	brain:	n/a	n/a
24	MAFK	chr13:52023167-52023537	HepG2	liver:	n/a	chr13:52023345-52023354 chr13:52023344-52023358 chr13:52023343-52023359 chr13:52023348-52023357 chr13:52023341-52023361 chr13:52023340-52023355 chr13:52023345-52023355
25	POLR2A	chr13:52023259-52023767	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr13:52023273-52029011	GM12891	blood:	n/a	n/a
27	POLR2A	chr13:52023300-52023667	GM12891	blood:	n/a	n/a
28	POLR2A	chr13:52022966-52025095	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:52022728..52028464-chr13:52376436..52381467,17	K562	blood:
2	chr13:51966639..51968380-chr13:52022366..52024223,2	K562	blood:
3	chr13:52023047..52029598-chr13:52376243..52380914,21	K562	blood:
4	chr13:52022475..52029228-chr13:52156654..52162250,29	K562	blood:
5	chr13:52022170..52025698-chr13:52211557..52214174,3	MCF-7	breast:
6	chr13:52022483..52024400-chr13:52339695..52341730,2	MCF-7	breast:
7	chr13:52022285..52029211-chr13:52148229..52167071,88	MCF-7	breast:
8	chr13:52022346..52024243-chr13:52205335..52207753,2	MCF-7	breast:
9	chr13:52023038..52025684-chr13:52169375..52171570,2	K562	blood:
10	chr13:52023235..52023858-chr4:108783727..108784488,2	MCF-7	breast:
11	chr13:52022042..52032158-chr13:52153162..52160287,46	K562	blood:
12	chr13:52022276..52028052-chr13:52350866..52359408,15	MCF-7	breast:
13	chr13:52023374..52025771-chr13:52171326..52173571,2	MCF-7	breast:
14	chr13:52023012..52024610-chr13:52355811..52358608,2	MCF-7	breast:
15	chr13:52023359..52028039-chr13:52370142..52379804,19	MCF-7	breast:
16	chr13:51970484..51973482-chr13:52022310..52025240,2	K562	blood:
17	chr13:52015950..52029988-chr13:52150583..52166755,85	MCF-7	breast:

Variant related genes	Relation type
RPS4XP16	TF binding region
INTS6-AS1	TF binding region
ENSG00000139668	Chromatin interaction
ENSG00000102796	Chromatin interaction
ENSG00000231856	Chromatin interaction
ENSG00000224451	Chromatin interaction
ENSG00000206920	Chromatin interaction

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

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

rs_ID	r²[population]
rs1014934	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs3818360	0.83[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs7327381	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7336209	0.83[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7991685	0.83[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.84[ASN][1000 genomes]
rs9535650	0.80[MEX][hapmap]
rs9535657	0.83[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.84[ASN][1000 genomes]
rs9535664	0.83[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.84[ASN][1000 genomes]
rs9596506	0.80[MEX][hapmap]

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51949400-52025000	Weak transcription	Fetal Muscle Leg	muscle
2	chr13:51950000-52025200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr13:51963200-52024800	Weak transcription	Fetal Intestine Large	intestine
4	chr13:51971800-52025000	Weak transcription	Fetal Stomach	stomach
5	chr13:51984400-52024800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:51988800-52024400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr13:51992400-52025400	Weak transcription	Esophagus	oesophagus
8	chr13:51995400-52024600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr13:51995600-52025000	Weak transcription	Right Ventricle	heart
10	chr13:51995600-52025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:51997000-52025200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:51997400-52024400	Weak transcription	Thymus	Thymus
13	chr13:51997600-52023600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr13:52000600-52025200	Weak transcription	Small Intestine	intestine
15	chr13:52001400-52024600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:52001600-52024400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:52002200-52024000	Weak transcription	Brain Anterior Caudate	brain
18	chr13:52003600-52024200	Weak transcription	NHLF	lung
19	chr13:52003800-52024600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr13:52004200-52024800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:52004400-52024200	Weak transcription	Adipose Nuclei	Adipose
22	chr13:52004400-52024600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:52004600-52023600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:52004600-52024200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr13:52004600-52024200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr13:52004600-52024800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:52004600-52025200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:52004800-52023600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr13:52005600-52023600	Weak transcription	NH-A	brain
30	chr13:52008400-52023800	Weak transcription	Hela-S3	cervix
31	chr13:52010400-52024400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr13:52012200-52025400	Weak transcription	Left Ventricle	heart
33	chr13:52013000-52024000	Weak transcription	Fetal Brain Female	brain
34	chr13:52013600-52025400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr13:52015000-52025000	Weak transcription	Brain Germinal Matrix	brain
36	chr13:52016800-52025200	Weak transcription	Psoas Muscle	Psoas
37	chr13:52017000-52024400	Weak transcription	Fetal Intestine Small	intestine
38	chr13:52017000-52025400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:52018800-52024800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr13:52018800-52025200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr13:52019600-52025400	Weak transcription	Fetal Brain Male	brain
42	chr13:52019800-52024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:52019800-52024600	Weak transcription	Brain Angular Gyrus	brain
44	chr13:52020000-52025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr13:52020000-52025000	Strong transcription	HSMM	muscle
46	chr13:52020400-52024200	Strong transcription	Dnd41	blood
47	chr13:52020400-52024800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr13:52020400-52025000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr13:52020600-52025200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:52021400-52024200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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