Variant report

Variant	rs17038339
Chromosome Location	chr12:106697453-106697454
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	CREB1	chr12:106696093-106697496	HepG2	liver:	n/a	n/a
2	CTCF	chr12:106697325-106697475	Lung_OC	lung:	n/a	n/a
3	CTCF	chr12:106697360-106697510	GM12864	blood:	n/a	n/a
4	SIN3A	chr12:106696237-106697474	H1-hESC	embryonic stem cell:	n/a	chr12:106696307-106696320 chr12:106696589-106696600 chr12:106697233-106697242
5	CTCF	chr12:106697360-106697510	A549	lung:	n/a	n/a
6	CTCF	chr12:106697320-106697470	HMF	breast:	n/a	n/a
7	TCF12	chr12:106696114-106697567	A549	lung:	n/a	n/a
8	POLR2A	chr12:106696243-106697559	Hela-S3	cervix:	n/a	n/a
9	MAX	chr12:106696193-106697484	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr12:106696219-106699729	MCF10A-Er-Src	breast:	n/a	n/a
11	GTF2F1	chr12:106697148-106697463	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:106696245-106697465	GM19193	blood:	n/a	n/a
13	CTCF	chr12:106697358-106697458	GM12878	blood:	n/a	n/a
14	CTCF	chr12:106697338-106697463	NHEK	skin:	n/a	n/a
15	HEY1	chr12:106696339-106697504	HepG2	liver:	n/a	chr12:106696523-106696538
16	UBTF	chr12:106696635-106697461	K562	blood:	n/a	n/a
17	CTCF	chr12:106697360-106697510	GM12874	blood:	n/a	n/a
18	POLR2A	chr12:106696447-106697475	HepG2	liver:	n/a	n/a
19	RCOR1	chr12:106695135-106697488	K562	blood:	n/a	n/a
20	MAX	chr12:106696206-106697488	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:106697320-106697470	Hela-S3	cervix:	n/a	n/a
22	MAX	chr12:106696919-106697472	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr12:106695196-106698197	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr12:106697340-106697490	GM12873	blood:	n/a	n/a
25	POLR2A	chr12:106697026-106697491	HepG2	liver:	n/a	n/a
26	CTCF	chr12:106697360-106697510	HCT-116	colon:	n/a	n/a
27	JUND	chr12:106696189-106697456	SK-N-SH	brain:	n/a	chr12:106696611-106696619 chr12:106696955-106696964 chr12:106696935-106696944
28	CTCF	chr12:106697320-106697470	GM12866	blood:	n/a	n/a
29	CTCF	chr12:106697340-106697490	GM12869	blood:	n/a	n/a
30	CTCF	chr12:106697320-106697470	NHEK	skin:	n/a	n/a
31	POLR2A	chr12:106695130-106701174	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr12:106697075-106697508	MCF10A-Er-Src	breast:	n/a	n/a
33	KAP1	chr12:106697213-106697457	U2OS	brain:	n/a	n/a
34	MAZ	chr12:106695811-106697488	HepG2	liver:	n/a	n/a
35	CTCF	chr12:106697340-106697490	HEK293	kidney:	n/a	n/a
36	SIN3AK20	chr12:106695325-106697614	MCF-7	breast:	n/a	n/a
37	CTCF	chr12:106697245-106697586	GM12878	blood:	n/a	n/a
38	SP1	chr12:106696888-106697475	H1-hESC	embryonic stem cell:	n/a	chr12:106697203-106697216 chr12:106697247-106697256 chr12:106697070-106697084 chr12:106696925-106696939 chr12:106697246-106697258 chr12:106697199-106697211 chr12:106697118-106697132 chr12:106697200-106697214 chr12:106697199-106697210 chr12:106697248-106697257 chr12:106697243-106697257 chr12:106697201-106697210 chr12:106697246-106697258
39	MAZ	chr12:106695193-106697500	K562	blood:	n/a	n/a
40	CTCF	chr12:106697360-106697510	GM06990	blood:	n/a	n/a
41	CTCF	chr12:106697380-106697530	HMF	breast:	n/a	n/a
42	CTCF	chr12:106697320-106697470	GM06990	blood:	n/a	n/a
43	CTCF	chr12:106697360-106697510	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr12:106697320-106697470	BJ	skin:	n/a	n/a
45	POLR2A	chr12:106696205-106697523	H1-neurons	neurons:	n/a	n/a
46	HCFC1	chr12:106696165-106697706	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr12:106696172-106697488	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr12:106697380-106697530	AG10803	skin:	n/a	n/a
49	CHD1	chr12:106696212-106697917	IMR90	lung:	n/a	chr12:106696734-106696744 chr12:106696291-106696301
50	ZNF143	chr12:106696114-106697470	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:106693946..106698218-chr12:106750404..106754111,7	MCF-7	breast:
2	chr12:106639346..106644112-chr12:106694122..106698214,13	MCF-7	breast:
3	chr12:106641570..106642137-chr12:106697112..106697741,2	MCF-7	breast:
4	chr12:106695715..106698780-chr12:106751795..106753760,4	K562	blood:
5	chr12:106694726..106698780-chr12:106749876..106753760,9	K562	blood:
6	chr12:106640063..106644049-chr12:106694395..106698756,11	MCF-7	breast:

Variant related genes	Relation type
TCP11L2	TF binding region
ENSG00000136026	Chromatin interaction
ENSG00000013503	Chromatin interaction
ENSG00000258355	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11832175	0.89[ASW][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11832187	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11833143	1.00[ASN][1000 genomes]
rs11836922	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41497147	0.89[ASW][hapmap];0.83[MKK][hapmap];1.00[AMR][1000 genomes]
rs73197506	1.00[ASN][1000 genomes]
rs73197527	1.00[ASN][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	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106695200-106697600	Active TSS	Esophagus	oesophagus
2	chr12:106695400-106697800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:106695400-106697800	Active TSS	Psoas Muscle	Psoas
4	chr12:106695400-106697800	Active TSS	Right Atrium	heart
5	chr12:106695400-106698200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:106695600-106697600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:106695600-106697600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr12:106695600-106697600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr12:106695600-106697600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:106695600-106697600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:106695600-106697600	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr12:106695600-106697600	Active TSS	Fetal Kidney	kidney
13	chr12:106695600-106697600	Active TSS	A549	lung
14	chr12:106695600-106697800	Active TSS	Ovary	ovary
15	chr12:106695600-106698000	Active TSS	Aorta	Aorta
16	chr12:106695600-106698200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:106695800-106697600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr12:106695800-106697600	Active TSS	Primary T cells from cord blood	blood
19	chr12:106695800-106697600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr12:106695800-106697600	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr12:106695800-106697600	Active TSS	Brain Hippocampus Middle	brain
22	chr12:106695800-106697600	Active TSS	Brain Substantia Nigra	brain
23	chr12:106695800-106697600	Active TSS	Colon Smooth Muscle	Colon
24	chr12:106695800-106697600	Active TSS	Rectal Smooth Muscle	rectum
25	chr12:106695800-106697600	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr12:106695800-106697800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:106695800-106697800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr12:106696000-106697600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr12:106696000-106697600	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr12:106696000-106697600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:106696000-106697600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:106696000-106697600	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr12:106696000-106697600	Active TSS	Brain Angular Gyrus	brain
34	chr12:106696000-106697600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:106696000-106697600	Active TSS	Left Ventricle	heart
36	chr12:106696000-106697600	Active TSS	Pancreas	Pancrea
37	chr12:106696000-106697600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr12:106696000-106697600	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr12:106696000-106697600	Active TSS	Stomach Mucosa	stomach
40	chr12:106696000-106697600	Active TSS	Thymus	Thymus
41	chr12:106696000-106697600	Active TSS	HSMMtube	muscle
42	chr12:106696000-106697600	Active TSS	NH-A	brain
43	chr12:106696000-106697600	Active TSS	NHLF	lung
44	chr12:106696000-106697800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:106696000-106697800	Active TSS	Brain Anterior Caudate	brain
46	chr12:106696000-106697800	Active TSS	Brain Cingulate Gyrus	brain
47	chr12:106696000-106697800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr12:106696000-106697800	Active TSS	Lung	lung
49	chr12:106696000-106697800	Active TSS	Right Ventricle	heart
50	chr12:106696600-106698200	Flanking Active TSS	Primary hematopoietic stem cells	blood

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