Variant report

Variant	rs59492575
Chromosome Location	chr12:124479620-124479621
allele	C/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	STAT3	chr12:124479613-124480109	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:124479597-124479752	GM12878	blood:	n/a	n/a
3	FOS	chr12:124479600-124480040	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr12:124479491-124479991	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr12:124479609-124480057	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr12:124479583-124480078	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:124479569-124480079	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:124479571-124480120	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr12:124479595-124480026	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPB	chr12:124479557-124479982	IMR90	lung:	n/a	n/a
11	POLR2A	chr12:124479553-124479893	HepG2	liver:	n/a	n/a
12	RCOR1	chr12:124479239-124480405	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124478987..124480536-chr12:124482316..124484096,2	K562	blood:
2	chr12:124467883..124469775-chr12:124477187..124479710,2	MCF-7	breast:

Variant related genes	Relation type
ZNF664	TF binding region
ENSG00000179195	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1882487	1.00[AMR][1000 genomes]
rs7296574	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7980102	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1818097	chr12:124465667-124488972	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124460400-124479800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:124461200-124496800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:124469000-124483000	Weak transcription	Ovary	ovary
4	chr12:124469000-124492600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:124470800-124490200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:124471800-124480400	Weak transcription	Fetal Brain Male	brain
7	chr12:124474000-124479800	Weak transcription	Esophagus	oesophagus
8	chr12:124474200-124480400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:124474400-124480200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:124474400-124490400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:124474600-124484800	Weak transcription	Fetal Kidney	kidney
12	chr12:124474800-124481200	Enhancers	HMEC	breast
13	chr12:124475200-124480400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:124475400-124480000	Strong transcription	Fetal Muscle Leg	muscle
15	chr12:124475400-124481200	Strong transcription	Placenta	Placenta
16	chr12:124475400-124488600	Weak transcription	Psoas Muscle	Psoas
17	chr12:124475600-124480200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:124475600-124480800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:124475600-124480800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:124475600-124483600	Weak transcription	Colonic Mucosa	Colon
21	chr12:124475600-124485800	Strong transcription	Primary B cells from cord blood	blood
22	chr12:124476000-124480600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:124476000-124481800	Weak transcription	Spleen	Spleen
24	chr12:124476200-124492400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:124476400-124479800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:124476400-124480000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:124476400-124480000	Weak transcription	HUVEC	blood vessel
28	chr12:124476400-124481800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:124476800-124482200	Genic enhancers	Fetal Intestine Large	intestine
30	chr12:124477400-124480400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:124477400-124484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:124477400-124484600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:124477600-124480600	Genic enhancers	NHEK	skin
34	chr12:124477600-124483200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:124477800-124479800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:124477800-124479800	Weak transcription	Adipose Nuclei	Adipose
37	chr12:124477800-124480800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr12:124477800-124481000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:124477800-124482400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:124477800-124483000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:124477800-124483000	Weak transcription	Aorta	Aorta
42	chr12:124477800-124485800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:124477800-124486600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:124478000-124479800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:124478000-124480400	Enhancers	Fetal Intestine Small	intestine
46	chr12:124478000-124481600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:124478000-124481600	Weak transcription	Liver	Liver
48	chr12:124478000-124482600	Weak transcription	Lung	lung
49	chr12:124478000-124483200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:124478000-124485000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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