Variant report

Variant	rs74061951
Chromosome Location	chr12:4649235-4649236
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	E2F4	chr12:4649031-4649870	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:4648277..4650261-chr12:4658631..4661516,2	K562	blood:
2	chr12:4647147..4649763-chr12:4649895..4651987,2	MCF-7	breast:
3	chr12:4638037..4640518-chr12:4647266..4649269,3	K562	blood:

Variant related genes	Relation type
RAD51AP1	TF binding region
C12orf4	TF binding region
ENSG00000111247	Chromatin interaction
ENSG00000047621	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs34810644	0.83[AMR][1000 genomes]
rs59185867	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61064582	0.83[AMR][1000 genomes]
rs7307556	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7315154	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74059626	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74061920	0.95[AFR][1000 genomes]
rs74061922	0.83[AFR][1000 genomes]
rs74061948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061956	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7955496	0.83[AMR][1000 genomes]
rs7958840	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7968517	0.83[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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4646600-4650000	Active TSS	K562	blood
2	chr12:4646800-4649400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:4646800-4649400	Active TSS	HSMM	muscle
4	chr12:4646800-4649600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:4646800-4649600	Active TSS	NHLF	lung
6	chr12:4647000-4649400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:4647000-4649400	Active TSS	Fetal Intestine Large	intestine
8	chr12:4647000-4649600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr12:4647000-4649600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:4648000-4649400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:4648000-4649600	Flanking Active TSS	HUVEC	blood vessel
12	chr12:4648200-4649600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:4648400-4649400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr12:4648400-4649600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:4648400-4649600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:4648400-4649600	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr12:4648400-4649600	Flanking Active TSS	Fetal Kidney	kidney
18	chr12:4648400-4649600	Flanking Active TSS	Osteobl	bone
19	chr12:4648400-4649800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr12:4648400-4653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:4648400-4670200	Weak transcription	Left Ventricle	heart
22	chr12:4648400-4671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:4648400-4671400	Weak transcription	Esophagus	oesophagus
24	chr12:4648600-4649400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr12:4648600-4649400	Flanking Active TSS	Thymus	Thymus
26	chr12:4648600-4649600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:4648600-4649600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:4648600-4649600	Enhancers	Primary B cells from cord blood	blood
29	chr12:4648600-4649800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:4648600-4671200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:4648800-4649400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:4648800-4649400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr12:4648800-4649400	Flanking Active TSS	HepG2	liver
34	chr12:4648800-4649400	Flanking Active TSS	NHEK	skin
35	chr12:4648800-4649600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:4648800-4649600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:4648800-4649600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:4648800-4649600	Flanking Active TSS	GM12878-XiMat	blood
39	chr12:4648800-4649600	Flanking Active TSS	HMEC	breast
40	chr12:4648800-4649600	Flanking Active TSS	NHDF-Ad	bronchial
41	chr12:4648800-4649800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:4648800-4649800	Flanking Active TSS	Hela-S3	cervix
43	chr12:4648800-4654000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr12:4648800-4655000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:4648800-4659600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:4648800-4664800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:4648800-4669600	Weak transcription	Fetal Brain Male	brain
48	chr12:4648800-4670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:4648800-4671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:4649000-4649400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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