Variant report

Variant	rs1612131
Chromosome Location	chr12:121714926-121714927
allele	G/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	MYC	chr12:121714718-121715290	MCF10A-Er-Src	breast:	n/a	chr12:121714940-121714949 chr12:121714941-121714948 chr12:121715010-121715019 chr12:121714939-121714950 chr12:121714939-121714949 chr12:121714940-121714949
2	STAT5A	chr12:121714727-121715217	GM12878	blood:	n/a	chr12:121714891-121714914
3	RUNX3	chr12:121714712-121715306	GM12878	blood:	n/a	n/a
4	USF2	chr12:121714813-121715089	GM12878	blood:	n/a	n/a
5	CTCF	chr12:121714820-121714970	HCPEpiC	choroid plexus:	n/a	n/a
6	MYC	chr12:121714733-121715401	MCF10A-Er-Src	breast:	n/a	chr12:121714940-121714949 chr12:121714941-121714948 chr12:121715010-121715019 chr12:121714939-121714950 chr12:121714939-121714949 chr12:121714940-121714949
7	POLR2A	chr12:121714775-121715078	HUVEC	blood vessel:	n/a	n/a
8	CREB1	chr12:121714783-121715222	GM12878	blood:	n/a	n/a
9	E2F4	chr12:121714857-121715332	MCF10A-Er-Src	breast:	n/a	n/a
10	PAX5	chr12:121714795-121715196	GM12878	blood:	n/a	n/a
11	CTCF	chr12:121714820-121714970	HCM	heart:	n/a	n/a
12	STAT3	chr12:121714876-121715203	MCF10A-Er-Src	breast:	n/a	chr12:121714891-121714914
13	CEBPB	chr12:121714704-121715269	A549	lung:	n/a	n/a
14	IRF4	chr12:121714818-121715195	GM12878	blood:	n/a	n/a
15	PAX5	chr12:121714798-121715212	GM12878	blood:	n/a	n/a
16	USF1	chr12:121714801-121715017	SK-N-SH_RA	brain:	n/a	n/a
17	MAX	chr12:121714703-121715368	A549	lung:	n/a	chr12:121714940-121714949 chr12:121714941-121714948 chr12:121715010-121715019 chr12:121714939-121714950 chr12:121714939-121714949 chr12:121714704-121714714 chr12:121714940-121714949
18	USF1	chr12:121714769-121715070	A549	lung:	n/a	n/a
19	POLR2A	chr12:121714700-121715224	GM12892	blood:	n/a	n/a
20	SIN3AK20	chr12:121714765-121715133	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr12:121714721-121715254	U87	brain:	n/a	n/a
22	MTA3	chr12:121714706-121715286	GM12878	blood:	n/a	n/a
23	MAX	chr12:121714714-121715199	SK-N-SH	brain:	n/a	chr12:121714940-121714949 chr12:121714941-121714948 chr12:121715010-121715019 chr12:121714939-121714950 chr12:121714939-121714949 chr12:121714940-121714949
24	FOSL2	chr12:121714722-121715260	A549	lung:	n/a	chr12:121715013-121715020 chr12:121715008-121715020 chr12:121715010-121715018
25	BHLHE40	chr12:121714798-121715132	A549	lung:	n/a	n/a
26	MAX	chr12:121714704-121715281	A549	lung:	n/a	chr12:121714940-121714949 chr12:121714941-121714948 chr12:121715010-121715019 chr12:121714939-121714950 chr12:121714939-121714949 chr12:121714704-121714714 chr12:121714940-121714949
27	FOS	chr12:121714802-121715541	MCF10A-Er-Src	breast:	n/a	chr12:121715013-121715020 chr12:121715008-121715020 chr12:121715008-121715019 chr12:121715010-121715018
28	MXI1	chr12:121714305-121715264	IMR90	lung:	n/a	n/a
29	CEBPB	chr12:121714745-121715214	IMR90	lung:	n/a	n/a
30	MAX	chr12:121714819-121715103	A549	lung:	n/a	chr12:121714940-121714949 chr12:121714941-121714948 chr12:121715010-121715019 chr12:121714939-121714950 chr12:121714939-121714949 chr12:121714940-121714949
31	SP1	chr12:121714716-121715193	GM12878	blood:	n/a	n/a
32	BHLHE40	chr12:121714752-121715341	GM12878	blood:	n/a	n/a
33	MAX	chr12:121714753-121715149	HCT-116	colon:	n/a	chr12:121714940-121714949 chr12:121714941-121714948 chr12:121715010-121715019 chr12:121714939-121714950 chr12:121714939-121714949 chr12:121714940-121714949
34	EP300	chr12:121714811-121715173	GM12878	blood:	n/a	chr12:121714913-121714927
35	PAX5	chr12:121714714-121715283	GM12878	blood:	n/a	n/a
36	MYC	chr12:121714767-121715142	HUVEC	blood vessel:	n/a	chr12:121714940-121714949 chr12:121714941-121714948 chr12:121715010-121715019 chr12:121714939-121714950 chr12:121714939-121714949 chr12:121714940-121714949
37	POLR2A	chr12:121714721-121715279	U87	brain:	n/a	n/a
38	FOSL2	chr12:121714840-121715143	A549	lung:	n/a	chr12:121715013-121715020 chr12:121715008-121715020 chr12:121715010-121715018
39	RFX5	chr12:121714856-121714986	GM12878	blood:	n/a	chr12:121714915-121714923
40	BATF	chr12:121714886-121715159	GM12878	blood:	n/a	n/a
41	STAT3	chr12:121714855-121715286	MCF10A-Er-Src	breast:	n/a	chr12:121714891-121714914
42	TBP	chr12:121714771-121715171	GM12878	blood:	n/a	n/a
43	STAT5A	chr12:121714750-121715206	GM12878	blood:	n/a	chr12:121714891-121714914
44	YY1	chr12:121714696-121715103	GM12878	blood:	n/a	n/a
45	CEBPB	chr12:121714778-121715205	A549	lung:	n/a	n/a
46	BCL11A	chr12:121714810-121715205	GM12878	blood:	n/a	chr12:121714977-121714986 chr12:121714951-121714960
47	BCL3	chr12:121714797-121715068	GM12878	blood:	n/a	chr12:121714977-121714986 chr12:121714951-121714960
48	JUN	chr12:121714827-121715216	HUVEC	blood vessel:	n/a	chr12:121715013-121715020 chr12:121715008-121715020 chr12:121715010-121715018
49	MAX	chr12:121714730-121715188	SK-N-SH	brain:	n/a	chr12:121714940-121714949 chr12:121714941-121714948 chr12:121715010-121715019 chr12:121714939-121714950 chr12:121714939-121714949 chr12:121714940-121714949
50	MAX	chr12:121714819-121715118	GM12878	blood:	n/a	chr12:121714940-121714949 chr12:121714941-121714948 chr12:121715010-121715019 chr12:121714939-121714950 chr12:121714939-121714949 chr12:121714940-121714949

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121714889-121714939	LNCaP	prostate:	n/a
2	chr12:121714889-121714939	HepG2	liver:	n/a
3	chr12:121714889-121714939	AG10803	skin:	n/a
4	chr12:121714889-121714939	BE2_C	brain:	n/a
5	chr12:121714889-121714939	Hela-S3	cervix:	n/a
6	chr12:121714889-121714939	PFSK-1	brain:	n/a
7	chr12:121714889-121714939	HCM	heart:	n/a
8	chr12:121714889-121714939	BJ	skin:	n/a
9	chr12:121714889-121714939	CMK	blood:	n/a
10	chr12:121714889-121714939	HUVEC	blood vessel:	n/a
11	chr12:121714889-121714939	GM12878	blood:	n/a
12	chr12:121714889-121714939	NT2-D1	testis:	n/a
13	chr12:121714889-121714939	HIPEpiC	eye:	n/a
14	chr12:121714889-121714939	ovcar-3	ovarian:	n/a
15	chr12:121714889-121714939	HEK293	kidney:	embryo
16	chr12:121714889-121714939	AG09309	skin:	n/a
17	chr12:121714889-121714939	Jurkat	blood:	n/a
18	chr12:121714889-121714939	GM12891	blood:	n/a
19	chr12:121714889-121714939	AG09319	gingival:	n/a
20	chr12:121714889-121714939	Hepatocyte	liver:	n/a
21	chr12:121714889-121714939	MCF-7	breast:	n/a
22	chr12:121714889-121714939	GM12892	blood:	n/a
23	chr12:121714889-121714939	AoSMC	blood vessel:	n/a
24	chr12:121714889-121714939	ProgFib	skin:	n/a
25	chr12:121714889-121714939	ECC-1	luminal epithelium:	n/a
26	chr12:121714889-121714939	GM06990	blood:	n/a
27	chr12:121714889-121714939	IMR90	lung:	fetal
28	chr12:121714889-121714939	HRCEpiC	kidney:	n/a
29	chr12:121714889-121714939	SKMC	muscle:	n/a
30	chr12:121714889-121714939	SK-N-SH	brain:	n/a
31	chr12:121714889-121714939	NHBE	bronchial:	n/a
32	chr12:121714889-121714939	A549	lung:	n/a
33	chr12:121714889-121714939	NH-A	brain:	n/a
34	chr12:121714889-121714939	SK-N-MC	brain:	n/a
35	chr12:121714889-121714939	NHDF-neo	bronchial:	n/a
36	chr12:121714889-121714939	PANC-1	pancreas:	n/a
37	chr12:121714889-121714939	H1-hESC	embryonic stem cell:	embryo
38	chr12:121714889-121714939	RPTEC	kidney:	n/a
39	chr12:121714889-121714939	SK-N-SH_RA	brain:	n/a
40	chr12:121714889-121714939	GM19239	blood:	n/a
41	chr12:121714889-121714939	HPAEpiC	pulmonary alveolar:	n/a
42	chr12:121714889-121714939	HNPCEpiC	eye:	n/a
43	chr12:121714889-121714939	SAEC	small airway:	n/a
44	chr12:121714889-121714939	HRPEpiC	eye:	n/a
45	chr12:121714889-121714939	AG04450	lung:	fetal
46	chr12:121714889-121714939	PrEC	prostate:	n/a
47	chr12:121714889-121714939	AG04449	skin:	fetal
48	chr12:121714889-121714939	HCT-116	colon:	n/a
49	chr12:121714889-121714939	Caco-2	colon:	n/a
50	chr12:121714889-121714939	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121706801..121708995-chr12:121713234..121716382,3	MCF-7	breast:
2	chr12:121713150..121717520-chr12:121730584..121734759,5	MCF-7	breast:
3	chr12:121713637..121715499-chr12:121719759..121721908,2	MCF-7	breast:

Variant related genes	Relation type
CAMKK2	TF binding region
CAMKK2	CpG island
ENSG00000110931	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1151881	1.00[AMR][1000 genomes]
rs1151883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1151884	1.00[AMR][1000 genomes]
rs1151888	1.00[AMR][1000 genomes]
rs1151889	1.00[AMR][1000 genomes]
rs1151891	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs1151892	1.00[AMR][1000 genomes]
rs1718122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2089886	1.00[CHB][hapmap]
rs2393845	1.00[AMR][1000 genomes]
rs2436162	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs2686348	1.00[AMR][1000 genomes]
rs891779	1.00[AMR][1000 genomes]
rs891780	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121677400-121717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121677400-121717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
4	chr12:121681200-121717800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:121688400-121733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:121689200-121717000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:121691200-121716400	Weak transcription	Psoas Muscle	Psoas
8	chr12:121699800-121716600	Weak transcription	Stomach Mucosa	stomach
9	chr12:121699800-121717200	Weak transcription	Fetal Heart	heart
10	chr12:121706600-121726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:121707000-121733200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:121707400-121715000	Weak transcription	NHDF-Ad	bronchial
13	chr12:121707400-121715200	Weak transcription	Fetal Kidney	kidney
14	chr12:121707400-121716600	Weak transcription	Brain Angular Gyrus	brain
15	chr12:121707400-121720200	Weak transcription	K562	blood
16	chr12:121707400-121733200	Weak transcription	HSMM	muscle
17	chr12:121707600-121719200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:121707600-121724600	Weak transcription	Fetal Brain Male	brain
19	chr12:121708800-121715400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:121708800-121730200	Weak transcription	HepG2	liver
21	chr12:121708800-121733400	Weak transcription	HSMMtube	muscle
22	chr12:121709200-121715200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:121709200-121719000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:121709200-121726000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:121709400-121718600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:121711400-121716600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:121711400-121719800	Weak transcription	Small Intestine	intestine
28	chr12:121711400-121732200	Weak transcription	Hela-S3	cervix
29	chr12:121711600-121716000	Weak transcription	Fetal Lung	lung
30	chr12:121711600-121716600	Weak transcription	Brain Substantia Nigra	brain
31	chr12:121711600-121717200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:121711800-121717400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:121711800-121732200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:121712000-121715800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:121712000-121716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:121712000-121716400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:121712000-121716600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:121712000-121725400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:121712000-121729000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:121712000-121732000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:121712200-121716400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:121712200-121716400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:121712200-121716600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:121712200-121716800	Weak transcription	Colonic Mucosa	Colon
45	chr12:121712200-121717000	Weak transcription	NHLF	lung
46	chr12:121712200-121726000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:121712200-121728400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:121712400-121715400	Weak transcription	Lung	lung
49	chr12:121712400-121715800	Weak transcription	Ovary	ovary
50	chr12:121712400-121716200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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