Variant report

Variant	rs11984962
Chromosome Location	chr8:125053948-125053949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:125053524-125053948	SK-N-SH_RA	brain:	n/a	n/a
2	BHLHE40	chr8:125053520-125053964	K562	blood:	n/a	n/a
3	TCF12	chr8:125053381-125054147	SK-N-SH	brain:	n/a	n/a
4	EP300	chr8:125053363-125053953	SK-N-SH_RA	brain:	n/a	n/a
5	RAD21	chr8:125053478-125054013	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr8:125053549-125054037	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr8:125053545-125053952	ECC-1	luminal epithelium:	n/a	n/a
8	EP300	chr8:125051759-125055472	SK-N-SH	brain:	n/a	chr8:125054259-125054267 chr8:125054847-125054861
9	JUND	chr8:125053667-125053953	K562	blood:	n/a	n/a
10	MXI1	chr8:125052934-125054972	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr8:125053291-125054004	SK-N-SH	brain:	n/a	n/a
12	KAP1	chr8:125053215-125054037	HEK293	kidney:	n/a	chr8:125054005-125054013
13	GATA3	chr8:125053413-125053964	SH-SY5Y	brain:	n/a	n/a
14	EP300	chr8:125053356-125054047	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr8:125053298-125054080	SK-N-SH	brain:	n/a	n/a
16	EP300	chr8:125053245-125053980	ECC-1	luminal epithelium:	n/a	n/a
17	PBX3	chr8:125053352-125054016	SK-N-SH	brain:	n/a	n/a
18	MAX	chr8:125053523-125053966	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr8:125053235-125054858	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr8:125052122-125054083	ECC-1	luminal epithelium:	n/a	n/a
21	TEAD4	chr8:125053419-125053979	ECC-1	luminal epithelium:	n/a	n/a
22	NFIC	chr8:125053340-125054112	ECC-1	luminal epithelium:	n/a	n/a
23	PBX3	chr8:125053274-125053963	SK-N-SH	brain:	n/a	n/a
24	GATA2	chr8:125053424-125054949	SH-SY5Y	brain:	n/a	n/a
25	NFIC	chr8:125053447-125053979	SK-N-SH	brain:	n/a	n/a
26	NFIC	chr8:125053356-125054065	SK-N-SH	brain:	n/a	n/a
27	EP300	chr8:125053349-125054011	SK-N-SH_RA	brain:	n/a	n/a
28	TCF12	chr8:125053370-125054012	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr8:125053430-125054083	A549	lung:	n/a	n/a
30	KAP1	chr8:125053236-125054063	U2OS	brain:	n/a	chr8:125054005-125054013
31	NFIC	chr8:125052057-125054163	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125052912..125056665-chr8:125383684..125385533,3	MCF-7	breast:
2	chr8:125048985..125052591-chr8:125053625..125056640,3	MCF-7	breast:
3	chr8:125053217..125056265-chr8:125057070..125060007,3	MCF-7	breast:
4	chr8:125050340..125052770-chr8:125053493..125055124,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254249	TF binding region
FER1L6-AS1	TF binding region
ENSG00000254249	Chromatin interaction
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10094266	0.84[EUR][1000 genomes]
rs10094533	0.84[EUR][1000 genomes]
rs10102566	0.83[EUR][1000 genomes]
rs10106600	0.81[EUR][1000 genomes]
rs10113772	0.80[EUR][1000 genomes]
rs1073178	0.83[EUR][1000 genomes]
rs1075051	0.83[EUR][1000 genomes]
rs10808530	0.84[EUR][1000 genomes]
rs10808531	0.84[EUR][1000 genomes]
rs10956163	0.83[EUR][1000 genomes]
rs10956164	0.80[EUR][1000 genomes]
rs12375254	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12541155	0.83[EUR][1000 genomes]
rs12545670	0.80[EUR][1000 genomes]
rs13251412	0.80[EUR][1000 genomes]
rs13254252	0.83[EUR][1000 genomes]
rs13254498	0.83[EUR][1000 genomes]
rs13258808	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13258930	0.80[EUR][1000 genomes]
rs13261097	0.80[EUR][1000 genomes]
rs13263969	0.80[EUR][1000 genomes]
rs2069078	0.83[EUR][1000 genomes]
rs3886123	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242353	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4294164	0.80[EUR][1000 genomes]
rs4311644	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4330676	0.82[EUR][1000 genomes]
rs4345538	0.81[EUR][1000 genomes]
rs4389914	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4392878	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4404895	0.84[EUR][1000 genomes]
rs4410885	0.84[EUR][1000 genomes]
rs4412351	0.82[EUR][1000 genomes]
rs4460351	0.84[EUR][1000 genomes]
rs4483140	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4484683	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4510842	0.81[EUR][1000 genomes]
rs4576412	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4870886	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4871451	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4871452	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4871453	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871454	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4871457	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871458	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4871459	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871460	0.84[EUR][1000 genomes]
rs4871461	0.83[EUR][1000 genomes]
rs4871462	0.81[EUR][1000 genomes]
rs59583746	0.83[EUR][1000 genomes]
rs6470214	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6470216	0.84[EUR][1000 genomes]
rs6470217	0.84[EUR][1000 genomes]
rs6470218	0.83[EUR][1000 genomes]
rs6470219	0.81[EUR][1000 genomes]
rs6470220	0.82[EUR][1000 genomes]
rs6983060	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6984093	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6987082	0.84[EUR][1000 genomes]
rs6991629	0.84[EUR][1000 genomes]
rs6995745	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7001300	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7003992	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7005123	0.84[EUR][1000 genomes]
rs7007739	0.84[EUR][1000 genomes]
rs7009406	0.85[EUR][1000 genomes]
rs7010375	0.85[EUR][1000 genomes]
rs7012186	0.84[EUR][1000 genomes]
rs7013226	0.83[EUR][1000 genomes]
rs7815620	0.80[EUR][1000 genomes]
rs7815768	0.80[EUR][1000 genomes]
rs7816075	0.84[EUR][1000 genomes]
rs7825506	0.80[EUR][1000 genomes]
rs7826405	0.83[EUR][1000 genomes]
rs7831422	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7832499	0.83[EUR][1000 genomes]
rs7836974	0.83[EUR][1000 genomes]
rs7840702	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7841692	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7842213	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9297683	0.84[EUR][1000 genomes]
rs9297684	0.84[EUR][1000 genomes]
rs9297685	0.82[EUR][1000 genomes]
rs9643188	0.82[EUR][1000 genomes]

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125050600-125054800	Enhancers	Fetal Intestine Small	intestine
2	chr8:125051200-125054800	Enhancers	Fetal Intestine Large	intestine
3	chr8:125051400-125054000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:125051400-125054200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:125051400-125054200	Enhancers	A549	lung
6	chr8:125051400-125054400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:125051400-125054400	Enhancers	Fetal Muscle Leg	muscle
8	chr8:125051600-125054400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:125052000-125054000	Enhancers	Rectal Smooth Muscle	rectum
10	chr8:125052000-125054200	Enhancers	Colon Smooth Muscle	Colon
11	chr8:125052000-125054200	Enhancers	Fetal Stomach	stomach
12	chr8:125052000-125054400	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:125052000-125054400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:125052200-125054000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:125052200-125054000	Enhancers	Stomach Smooth Muscle	stomach
16	chr8:125052200-125054400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:125052200-125054600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:125052400-125054000	Enhancers	K562	blood
19	chr8:125052600-125054000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:125052600-125083600	Weak transcription	Gastric	stomach
21	chr8:125053000-125054000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:125053000-125060400	Weak transcription	Left Ventricle	heart
23	chr8:125053200-125054200	Enhancers	Primary T cells from cord blood	blood
24	chr8:125053400-125054000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:125053400-125054000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:125053400-125054000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:125053400-125054200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr8:125053600-125054000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr8:125053600-125054000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:125053600-125054000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:125053600-125054600	Enhancers	Brain Germinal Matrix	brain
32	chr8:125053600-125058600	Enhancers	Fetal Heart	heart
33	chr8:125053800-125054000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:125053800-125056200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:125053800-125059800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:125053800-125062400	Weak transcription	Stomach Mucosa	stomach

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