Variant report

Variant	rs61357438
Chromosome Location	chr12:122109891-122109892
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	chr12:122109818-122109977	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr12:122109760-122109910	AG10803	skin:	n/a	n/a
3	BHLHE40	chr12:122109822-122110015	GM12878	blood:	n/a	n/a
4	RAD21	chr12:122109807-122110002	Hela-S3	cervix:	n/a	n/a
5	MAX	chr12:122109862-122110694	H1-hESC	embryonic stem cell:	n/a	chr12:122110552-122110561
6	KAP1	chr12:122109797-122110835	HEK293	kidney:	n/a	n/a
7	MXI1	chr12:122109738-122111743	SK-N-SH	brain:	n/a	n/a
8	FOS	chr12:122109736-122109981	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr12:122109748-122110048	MCF10A-Er-Src	breast:	n/a	n/a
10	JUND	chr12:122109776-122110031	HepG2	liver:	n/a	n/a
11	FOS	chr12:122109701-122110073	MCF10A-Er-Src	breast:	n/a	n/a
12	ESRRA	chr12:122109520-122110261	GM12878	blood:	n/a	n/a
13	CREB1	chr12:122109641-122110220	GM12878	blood:	n/a	n/a
14	CEBPB	chr12:122109775-122109973	IMR90	lung:	n/a	n/a
15	STAT3	chr12:122109691-122110136	MCF10A-Er-Src	breast:	n/a	chr12:122110032-122110043
16	JUND	chr12:122109884-122110825	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3A	chr12:122109838-122110693	H1-hESC	embryonic stem cell:	n/a	n/a
18	MTA3	chr12:122109780-122110867	GM12878	blood:	n/a	n/a
19	FOS	chr12:122109693-122110052	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr12:122109810-122110155	GM12878	blood:	n/a	chr12:122110027-122110041
21	TBL1XR1	chr12:122109812-122110012	GM12878	blood:	n/a	n/a
22	CEBPB	chr12:122109828-122109920	K562	blood:	n/a	n/a
23	EP300	chr12:122109807-122110014	GM12878	blood:	n/a	n/a
24	JUN	chr12:122109787-122110045	HepG2	liver:	n/a	chr12:122109902-122109915
25	POLR2A	chr12:122109819-122110122	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF384	chr12:122109661-122110000	GM12878	blood:	n/a	n/a
27	CEBPB	chr12:122109731-122110079	Hela-S3	cervix:	n/a	n/a
28	KAP1	chr12:122109830-122110741	U2OS	brain:	n/a	n/a
29	CEBPB	chr12:122109817-122110092	H1-hESC	embryonic stem cell:	n/a	n/a
30	GATA1	chr12:122109842-122110625	PBDE	blood:	n/a	chr12:122110029-122110039 chr12:122110596-122110606
31	STAT3	chr12:122109815-122110096	MCF10A-Er-Src	breast:	n/a	chr12:122110032-122110043
32	BRCA1	chr12:122109853-122109956	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:122109861-122110178	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr12:122109691-122110195	GM12878	blood:	n/a	n/a
35	EP300	chr12:122109734-122110040	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122106004..122108217-chr12:122108294..122110534,2	MCF-7	breast:
2	chr12:121986936..121988892-chr12:122109089..122111571,2	MCF-7	breast:
3	chr12:121974913..121976672-chr12:122108817..122110319,2	MCF-7	breast:

Variant related genes	Relation type
MORN3	TF binding region
ENSG00000089094	Chromatin interaction
ENSG00000139714	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs28429133	1.00[AMR][1000 genomes]
rs34753496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55802359	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56122417	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56740297	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57510086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58214002	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58298336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58437343	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58701599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59126522	1.00[AMR][1000 genomes]
rs59247553	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59378678	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59832608	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59867893	1.00[AMR][1000 genomes]
rs60606431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7133877	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7968036	1.00[AMR][1000 genomes]
rs7968374	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974950	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122091000-122110000	Weak transcription	Pancreas	Pancrea
2	chr12:122097400-122110000	Weak transcription	Esophagus	oesophagus
3	chr12:122097400-122110000	Weak transcription	Right Atrium	heart
4	chr12:122102600-122110000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:122102800-122110000	Weak transcription	Thymus	Thymus
6	chr12:122102800-122110000	Weak transcription	Spleen	Spleen
7	chr12:122103000-122110000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:122103200-122110000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:122103200-122116000	Weak transcription	K562	blood
10	chr12:122106000-122110000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:122106800-122110000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:122106800-122110000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:122107000-122110000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:122107200-122110000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:122107400-122110000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:122107600-122110000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:122107600-122110000	Weak transcription	Fetal Intestine Large	intestine
18	chr12:122107600-122110000	Weak transcription	Fetal Intestine Small	intestine
19	chr12:122109200-122110000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:122109400-122110000	Enhancers	Primary B cells from cord blood	blood
21	chr12:122109400-122110000	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:122109400-122110000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:122109400-122110000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:122109400-122110000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:122109400-122110000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:122109400-122110000	Enhancers	Fetal Thymus	thymus
27	chr12:122109400-122110000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr12:122109400-122110400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr12:122109400-122110400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr12:122109400-122111000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr12:122109400-122111200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr12:122109400-122111200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr12:122109600-122110000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr12:122109600-122110000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:122109600-122110000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:122109600-122110000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:122109600-122110000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr12:122109600-122110200	Enhancers	Fetal Muscle Leg	muscle
39	chr12:122109600-122110200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr12:122109600-122110400	Flanking Active TSS	NHEK	skin
41	chr12:122109800-122110000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr12:122109800-122110000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr12:122109800-122110000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:122109800-122110000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr12:122109800-122110000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:122109800-122110000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr12:122109800-122110000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:122109800-122110000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:122109800-122110000	Enhancers	Primary hematopoietic stem cells	blood
50	chr12:122109800-122110000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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