Variant report

Variant	rs10849691
Chromosome Location	chr12:120154254-120154255
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	JUND	chr12:120154190-120154785	T-47D	breast:	n/a	chr12:120154261-120154270 chr12:120154542-120154553
2	GATA3	chr12:120154117-120154779	MCF-7	breast:	n/a	n/a
3	FOXA2	chr12:120154048-120154985	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:120154210-120154873	HUVEC	blood vessel:	n/a	n/a
5	JUND	chr12:120154126-120154799	T-47D	breast:	n/a	chr12:120154261-120154270 chr12:120154542-120154553
6	TEAD4	chr12:120154228-120154873	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr12:120154211-120154740	MCF-7	breast:	n/a	chr12:120154386-120154398
8	FOXA1	chr12:120154225-120154769	HepG2	liver:	n/a	n/a
9	SP1	chr12:120154157-120154879	HCT-116	colon:	n/a	n/a
10	TCF12	chr12:120154250-120154808	A549	lung:	n/a	n/a
11	FOXA1	chr12:120154242-120154808	HepG2	liver:	n/a	n/a
12	EP300	chr12:120154130-120154772	T-47D	breast:	n/a	n/a
13	RCOR1	chr12:120154224-120154912	IMR90	lung:	n/a	n/a
14	FOXA1	chr12:120154140-120154832	T-47D	breast:	n/a	n/a
15	ESR1	chr12:120154209-120154673	T-47D	breast:	n/a	n/a
16	MAX	chr12:120154225-120154792	MCF-7	breast:	n/a	n/a
17	MYC	chr12:120154141-120154845	MCF10A-Er-Src	breast:	n/a	n/a
18	JUND	chr12:120154220-120154863	HCT-116	colon:	n/a	chr12:120154261-120154270 chr12:120154542-120154553
19	JUN	chr12:120154227-120154760	HUVEC	blood vessel:	n/a	chr12:120154261-120154270
20	TCF7L2	chr12:120154119-120154587	MCF-7	breast:	n/a	n/a
21	JUND	chr12:120154232-120154777	Hela-S3	cervix:	n/a	chr12:120154261-120154270 chr12:120154542-120154553
22	ESR1	chr12:120154192-120154744	T-47D	breast:	n/a	n/a
23	NR3C1	chr12:120154230-120154891	A549	lung:	n/a	n/a
24	NR2F2	chr12:120154142-120154779	MCF-7	breast:	n/a	n/a
25	FOSL2	chr12:120154244-120154844	HepG2	liver:	n/a	chr12:120154261-120154270
26	ESR1	chr12:120154232-120154693	T-47D	breast:	n/a	n/a
27	FOXA1	chr12:120154148-120154814	A549	lung:	n/a	n/a
28	NR2F2	chr12:120154226-120154766	HepG2	liver:	n/a	n/a
29	JUND	chr12:120154226-120154875	MCF-7	breast:	n/a	chr12:120154261-120154270 chr12:120154542-120154553
30	FOXA1	chr12:120154169-120154822	HepG2	liver:	n/a	n/a
31	FOS	chr12:120154227-120154745	MCF10A-Er-Src	breast:	n/a	chr12:120154261-120154270 chr12:120154542-120154553
32	FOSL1	chr12:120154220-120154855	HCT-116	colon:	n/a	chr12:120154261-120154270
33	ESR1	chr12:120154124-120154778	T-47D	breast:	n/a	n/a
34	TCF12	chr12:120154227-120154708	ECC-1	luminal epithelium:	n/a	n/a
35	ESR1	chr12:120154174-120154713	T-47D	breast:	n/a	n/a
36	TEAD4	chr12:120154246-120154795	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr12:120154181-120154761	Hela-S3	cervix:	n/a	chr12:120154386-120154398
38	SIN3AK20	chr12:120154021-120154959	MCF-7	breast:	n/a	n/a
39	GATA3	chr12:120154204-120154793	T-47D	breast:	n/a	n/a
40	NR3C1	chr12:120154225-120154916	A549	lung:	n/a	n/a
41	FOXA1	chr12:120154211-120154776	T-47D	breast:	n/a	n/a
42	NR2F2	chr12:120154195-120154885	MCF-7	breast:	n/a	n/a
43	TCF7L2	chr12:120154090-120154638	Hela-S3	cervix:	n/a	n/a
44	MYBL2	chr12:120154216-120154820	HepG2	liver:	n/a	n/a
45	CEBPB	chr12:120154212-120154523	IMR90	lung:	n/a	chr12:120154386-120154398
46	GATA3	chr12:120154150-120154775	T-47D	breast:	n/a	n/a
47	NFIC	chr12:120154122-120154831	ECC-1	luminal epithelium:	n/a	n/a
48	FOXA1	chr12:120154150-120154810	A549	lung:	n/a	n/a
49	TEAD4	chr12:120154213-120154890	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120147560..120151700-chr12:120152140..120156829,4	MCF-7	breast:
2	chr12:120154135..120156051-chr12:120168867..120171241,3	MCF-7	breast:
3	chr12:120152789..120154437-chr12:120157591..120159706,2	K562	blood:

Variant related genes	Relation type
MIR1178	TF binding region
CIT	TF binding region
ENSG00000122966	Chromatin interaction
ENSG00000221323	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10129003	0.82[ASN][1000 genomes]
rs10849692	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11064884	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296121	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs175877	0.80[ASN][1000 genomes]
rs2074052	0.84[ASN][1000 genomes]
rs2285595	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs278109	0.80[ASN][1000 genomes]
rs278110	0.83[ASN][1000 genomes]
rs278111	0.80[ASN][1000 genomes]
rs278139	0.84[ASN][1000 genomes]
rs278142	0.85[ASN][1000 genomes]
rs2936830	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2936831	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2936832	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2952403	0.89[ASN][1000 genomes]
rs2952444	0.87[ASN][1000 genomes]
rs2996027	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2996028	0.89[ASN][1000 genomes]
rs2996029	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2996030	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3213625	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3213626	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35070805	0.81[ASN][1000 genomes]
rs4766946	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766947	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767839	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767841	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7131914	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7132952	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299963	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7303046	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7961569	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
3	chr12:120121200-120173400	Weak transcription	Primary B cells from cord blood	blood
4	chr12:120122200-120160800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:120123400-120182000	Strong transcription	Dnd41	blood
6	chr12:120126600-120158000	Weak transcription	Colonic Mucosa	Colon
7	chr12:120130800-120182200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:120131200-120161600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:120131600-120154400	Weak transcription	Small Intestine	intestine
10	chr12:120132800-120162000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:120134800-120154400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:120136000-120156000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:120137000-120159800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:120139600-120159600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:120141000-120159600	Strong transcription	Fetal Thymus	thymus
16	chr12:120142600-120154400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:120143600-120160200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:120143800-120159800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:120143800-120160800	Strong transcription	Thymus	Thymus
20	chr12:120143800-120211200	Weak transcription	Fetal Brain Male	brain
21	chr12:120144200-120160000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:120144400-120160200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:120144600-120159800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr12:120144800-120159400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:120145000-120158200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:120145000-120168600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:120146000-120154800	Strong transcription	GM12878-XiMat	blood
28	chr12:120146200-120154400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:120148400-120154400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:120148400-120156000	Weak transcription	Brain Angular Gyrus	brain
31	chr12:120148400-120163400	Weak transcription	Brain Substantia Nigra	brain
32	chr12:120149400-120224800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:120149800-120156000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:120150600-120154400	Strong transcription	K562	blood
35	chr12:120151000-120156000	Weak transcription	Lung	lung
36	chr12:120151200-120154400	Weak transcription	Brain Anterior Caudate	brain
37	chr12:120151600-120154600	Weak transcription	Left Ventricle	heart
38	chr12:120151600-120156000	Weak transcription	Pancreas	Pancrea
39	chr12:120151600-120196600	Weak transcription	Gastric	stomach
40	chr12:120151800-120154400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:120151800-120156000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:120151800-120156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:120151800-120208400	Weak transcription	Fetal Brain Female	brain
44	chr12:120151800-120218600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:120152000-120154400	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:120152000-120154400	Weak transcription	NHLF	lung
47	chr12:120152000-120156000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:120152000-120156000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:120152000-120156400	Weak transcription	Brain Germinal Matrix	brain
50	chr12:120152200-120154400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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