Variant report

Variant	rs11831374
Chromosome Location	chr12:49109820-49109821
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	CHD1	chr12:49109693-49110683	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr12:49109783-49110924	Hela-S3	cervix:	n/a	chr12:49110718-49110727
3	POLR2A	chr12:49109796-49111486	K562	blood:	n/a	n/a
4	GABPA	chr12:49109608-49111059	A549	lung:	n/a	n/a
5	POLR2A	chr12:49109695-49111357	GM12892	blood:	n/a	n/a
6	HEY1	chr12:49109719-49111065	K562	blood:	n/a	chr12:49110851-49110866
7	POLR2A	chr12:49109801-49111170	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr12:49109674-49111332	MCF-7	breast:	n/a	n/a
9	TCF12	chr12:49109769-49111483	A549	lung:	n/a	n/a
10	MAX	chr12:49109814-49111151	ECC-1	luminal epithelium:	n/a	chr12:49110717-49110726 chr12:49110712-49110731 chr12:49110853-49110862 chr12:49110717-49110726 chr12:49110717-49110726 chr12:49110715-49110728
11	TEAD4	chr12:49109625-49111057	K562	blood:	n/a	n/a
12	WRNIP1	chr12:49109640-49110738	GM12878	blood:	n/a	n/a
13	MAZ	chr12:49109770-49111685	IMR90	lung:	n/a	chr12:49110717-49110726 chr12:49110712-49110731 chr12:49110853-49110862 chr12:49110717-49110726 chr12:49110717-49110726 chr12:49110715-49110728
14	POLR2A	chr12:49109426-49111243	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr12:49109795-49111048	Hela-S3	cervix:	n/a	n/a
16	REST	chr12:49109662-49111307	A549	lung:	n/a	n/a
17	E2F6	chr12:49109780-49111165	A549	lung:	n/a	chr12:49110774-49110785 chr12:49110128-49110140 chr12:49110369-49110384 chr12:49110707-49110716 chr12:49110775-49110787 chr12:49110103-49110110 chr12:49110103-49110110 chr12:49110102-49110110 chr12:49110103-49110110
18	POLR2A	chr12:49109604-49111577	GM12878	blood:	n/a	n/a
19	GABPA	chr12:49109809-49111077	MCF-7	breast:	n/a	n/a
20	POLR2A	chr12:49109580-49111476	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:49109742-49111307	GM12891	blood:	n/a	n/a
22	HA-E2F1	chr12:49109820-49111082	MCF-7	breast:	n/a	chr12:49110707-49110716 chr12:49110775-49110786 chr12:49110103-49110110 chr12:49110103-49110110 chr12:49110103-49110110
23	POLR2A	chr12:49109595-49111032	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr12:49109224-49111248	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:49109696-49111070	PBDE	blood:	n/a	n/a
26	STAT3	chr12:49109679-49109879	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr12:49109644-49111022	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:49109774-49111363	GM12892	blood:	n/a	n/a
29	MTA3	chr12:49109717-49111586	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:49109622-49111072	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr12:49108836-49111405	IMR90	lung:	n/a	n/a
32	POLR2A	chr12:49109790-49111085	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr12:49109618-49110981	K562	blood:	n/a	n/a
34	SIN3AK20	chr12:49109695-49111249	MCF-7	breast:	n/a	n/a
35	MAX	chr12:49109625-49111457	A549	lung:	n/a	chr12:49110717-49110726 chr12:49110712-49110731 chr12:49110853-49110862 chr12:49110717-49110726 chr12:49110717-49110726 chr12:49110715-49110728
36	POLR2A	chr12:49109818-49111559	SK-N-MC	brain:	n/a	n/a
37	GABPA	chr12:49109616-49110939	A549	lung:	n/a	n/a
38	POLR2A	chr12:49109604-49111041	Hela-S3	cervix:	n/a	n/a
39	MXI1	chr12:49109793-49111239	GM12878	blood:	n/a	chr12:49110718-49110727
40	HCFC1	chr12:49109580-49111678	Hela-S3	cervix:	n/a	n/a
41	CREB1	chr12:49109716-49111190	HepG2	liver:	n/a	n/a
42	POLR2A	chr12:49109781-49111056	ECC-1	luminal epithelium:	n/a	n/a
43	REST	chr12:49109774-49111309	H1-neurons	neurons:	n/a	n/a
44	GTF3C2	chr12:49109091-49110126	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr12:49109538-49111614	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:49109749-49110146	HCT-116	colon:	n/a	n/a
47	MAX	chr12:49109783-49111136	A549	lung:	n/a	chr12:49110717-49110726 chr12:49110712-49110731 chr12:49110853-49110862 chr12:49110717-49110726 chr12:49110717-49110726 chr12:49110715-49110728
48	POLR2A	chr12:49109807-49110989	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49109780-49109830	NH-A	brain:	n/a
2	chr12:49109780-49109830	RPTEC	kidney:	n/a
3	chr12:49109780-49109830	SAEC	small airway:	n/a
4	chr12:49109780-49109830	SKMC	muscle:	n/a
5	chr12:49109780-49109830	CMK	blood:	n/a
6	chr12:49109780-49109830	AG09309	skin:	n/a
7	chr12:49109780-49109830	GM06990	blood:	n/a
8	chr12:49109780-49109830	PANC-1	pancreas:	n/a
9	chr12:49109780-49109830	ProgFib	skin:	n/a
10	chr12:49109780-49109830	GM19239	blood:	n/a
11	chr12:49109780-49109830	U87	brain:	n/a
12	chr12:49109780-49109830	Caco-2	colon:	n/a
13	chr12:49109780-49109830	PrEC	prostate:	n/a
14	chr12:49109780-49109830	HCF	heart:	n/a
15	chr12:49109780-49109830	HAEpiC	amniotic membrane:	n/a
16	chr12:49109780-49109830	HCPEpiC	choroid plexus:	n/a
17	chr12:49109780-49109830	HRCEpiC	kidney:	n/a
18	chr12:49109780-49109830	HRE	kidney:	n/a
19	chr12:49109780-49109830	GM12878	blood:	n/a
20	chr12:49109780-49109830	AG10803	skin:	n/a
21	chr12:49109780-49109830	SK-N-MC	brain:	n/a
22	chr12:49109780-49109830	HEEpiC	esophagus:	n/a
23	chr12:49109780-49109830	IMR90	lung:	fetal
24	chr12:49109780-49109830	NHBE	bronchial:	n/a
25	chr12:49109780-49109830	A549	lung:	n/a
26	chr12:49109780-49109830	K562	blood:	n/a
27	chr12:49109780-49109830	HMEC	breast:	n/a
28	chr12:49109780-49109830	PFSK-1	brain:	n/a
29	chr12:49109780-49109830	LNCaP	prostate:	n/a
30	chr12:49109780-49109830	Jurkat	blood:	n/a
31	chr12:49109780-49109830	HIPEpiC	eye:	n/a
32	chr12:49109780-49109830	AG04449	skin:	fetal
33	chr12:49109780-49109830	NB4	blood:	n/a
34	chr12:49109780-49109830	HRPEpiC	eye:	n/a
35	chr12:49109780-49109830	Hela-S3	cervix:	n/a
36	chr12:49109780-49109830	GM12892	blood:	n/a
37	chr12:49109780-49109830	ECC-1	luminal epithelium:	n/a
38	chr12:49109780-49109830	H1-hESC	embryonic stem cell:	embryo
39	chr12:49109780-49109830	HCT-116	colon:	n/a
40	chr12:49109780-49109830	SK-N-SH	brain:	n/a
41	chr12:49109780-49109830	MCF10A-Er-Src	breast:	n/a
42	chr12:49109780-49109830	ovcar-3	ovarian:	n/a
43	chr12:49109780-49109830	NHDF-neo	bronchial:	n/a
44	chr12:49109780-49109830	HEK293	kidney:	embryo
45	chr12:49109780-49109830	MCF-7	breast:	n/a
46	chr12:49109780-49109830	HNPCEpiC	eye:	n/a
47	chr12:49109780-49109830	BJ	skin:	n/a
48	chr12:49109780-49109830	GM12891	blood:	n/a
49	chr12:49109780-49109830	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:49109780-49109830	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49109119..49112520-chr12:49258264..49261147,4	MCF-7	breast:
2	chr12:49109303..49111589-chr12:49371053..49372870,2	K562	blood:
3	chr12:49103301..49108658-chr12:49108679..49112078,7	K562	blood:
4	chr12:49108930..49110553-chr12:49207843..49209517,2	MCF-7	breast:
5	chr12:49096349..49098245-chr12:49108578..49110236,2	K562	blood:
6	chr12:49072667..49077768-chr12:49107571..49112359,8	MCF-7	breast:
7	chr12:49109798..49110586-chr16:67970262..67970821,2	Hela-S3	cervix:
8	chr12:49108937..49110842-chr12:49180917..49183089,2	MCF-7	breast:
9	chr12:49109260..49113049-chr12:49411417..49414170,4	K562	blood:
10	chr12:49109310..49111237-chr12:49657606..49659331,2	K562	blood:
11	chr12:49108385..49110371-chr12:49210566..49212165,2	MCF-7	breast:
12	chr12:49073439..49079132-chr12:49108039..49112179,15	K562	blood:
13	chr12:49072639..49079132-chr12:49108469..49112073,12	K562	blood:
14	chr12:49072707..49077771-chr12:49103757..49111723,15	MCF-7	breast:

Variant related genes	Relation type
CCNT1	TF binding region
CCNT1	CpG island
ENSG00000258101	Chromatin interaction
ENSG00000172602	Chromatin interaction
ENSG00000257660	Chromatin interaction
ENSG00000174233	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000125084	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000205220	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000181929	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11168610	1.00[EUR][1000 genomes]
rs11168626	1.00[EUR][1000 genomes]
rs11503892	1.00[EUR][1000 genomes]
rs11534	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11551273	1.00[EUR][1000 genomes]
rs11830117	1.00[EUR][1000 genomes]
rs11830164	1.00[EUR][1000 genomes]
rs11830884	1.00[EUR][1000 genomes]
rs11832320	1.00[EUR][1000 genomes]
rs11833394	1.00[EUR][1000 genomes]
rs11833669	1.00[EUR][1000 genomes]
rs11835422	1.00[EUR][1000 genomes]
rs11837122	1.00[EUR][1000 genomes]
rs11837337	1.00[EUR][1000 genomes]
rs11837993	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11838121	1.00[EUR][1000 genomes]
rs11838289	1.00[EUR][1000 genomes]
rs11838360	1.00[EUR][1000 genomes]
rs12304826	1.00[EUR][1000 genomes]
rs12305150	1.00[EUR][1000 genomes]
rs12307016	1.00[EUR][1000 genomes]
rs17123267	1.00[EUR][1000 genomes]
rs17123398	1.00[EUR][1000 genomes]
rs34139009	1.00[EUR][1000 genomes]
rs36119652	1.00[EUR][1000 genomes]
rs55956587	1.00[EUR][1000 genomes]
rs56179964	1.00[EUR][1000 genomes]
rs57337154	1.00[EUR][1000 genomes]
rs57454425	1.00[EUR][1000 genomes]
rs57658152	1.00[EUR][1000 genomes]
rs59304927	1.00[EUR][1000 genomes]
rs59708884	1.00[EUR][1000 genomes]
rs60351852	1.00[EUR][1000 genomes]
rs71439468	1.00[EUR][1000 genomes]
rs7303057	1.00[EUR][1000 genomes]
rs7312311	1.00[EUR][1000 genomes]
rs7315319	1.00[EUR][1000 genomes]
rs74088131	1.00[EUR][1000 genomes]
rs74088137	1.00[EUR][1000 genomes]
rs74088163	1.00[EUR][1000 genomes]
rs74088167	1.00[EUR][1000 genomes]
rs74088185	1.00[EUR][1000 genomes]
rs74088186	1.00[EUR][1000 genomes]
rs74089357	1.00[EUR][1000 genomes]
rs74089364	1.00[EUR][1000 genomes]
rs7956989	1.00[EUR][1000 genomes]
rs7959705	1.00[EUR][1000 genomes]
rs7970421	1.00[EUR][1000 genomes]
rs7973146	1.00[EUR][1000 genomes]
rs7973248	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49107200-49110400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr12:49108200-49111600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:49108400-49110000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:49108400-49110400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr12:49108600-49110000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr12:49108600-49110000	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr12:49108600-49111800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:49108800-49110000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr12:49108800-49110000	Flanking Active TSS	Osteobl	bone
10	chr12:49108800-49110400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr12:49108800-49110400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:49108800-49111600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:49108800-49111600	Active TSS	NH-A	brain
14	chr12:49108800-49111600	Active TSS	NHLF	lung
15	chr12:49108800-49111800	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr12:49109000-49110200	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr12:49109000-49110200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr12:49109000-49110200	Active TSS	Right Atrium	heart
19	chr12:49109000-49110200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr12:49109000-49110400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr12:49109000-49111400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:49109000-49111600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:49109000-49111600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr12:49109000-49111600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:49109000-49111600	Active TSS	Psoas Muscle	Psoas
26	chr12:49109000-49111600	Active TSS	NHDF-Ad	bronchial
27	chr12:49109000-49111800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:49109200-49110000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr12:49109200-49110000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr12:49109200-49110000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:49109200-49110000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:49109200-49110000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr12:49109200-49110000	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr12:49109200-49110200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr12:49109200-49110400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:49109200-49111200	Active TSS	Duodenum Mucosa	Duodenum
37	chr12:49109200-49111200	Active TSS	Hela-S3	cervix
38	chr12:49109200-49111200	Active TSS	HMEC	breast
39	chr12:49109200-49111200	Active TSS	HUVEC	blood vessel
40	chr12:49109200-49111200	Active TSS	NHEK	skin
41	chr12:49109200-49111400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:49109200-49111400	Active TSS	Fetal Kidney	kidney
43	chr12:49109200-49111400	Active TSS	Right Ventricle	heart
44	chr12:49109200-49111400	Active TSS	K562	blood
45	chr12:49109200-49111600	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr12:49109200-49111600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr12:49109200-49111600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:49109200-49111600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:49109200-49111600	Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:49109200-49111600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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