Variant report

Variant	rs2462935
Chromosome Location	chr12:56126443-56126444
allele	A/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	POLR2A	chr12:56126396-56126447	ProgFib	skin:	n/a	n/a
2	POLR2A	chr12:56126239-56126477	K562	blood:	n/a	n/a
3	POLR2A	chr12:56126178-56126454	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56088543..56091362-chr12:56123816..56126744,2	K562	blood:
2	chr12:56124989..56127766-chr12:56135885..56138579,2	MCF-7	breast:
3	chr12:56119294..56126638-chr12:56434111..56441706,13	K562	blood:

Variant related genes	Relation type
CD63	TF binding region
ENSG00000257384	TF binding region
ENSG00000135414	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000135424	Chromatin interaction
ENSG00000197728	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2694015	1.00[AFR][1000 genomes]
rs772256	1.00[AFR][1000 genomes]
rs772257	1.00[AFR][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	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv469410	chr12:56098038-56170893	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv559004	chr12:56098038-56170893	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56124000-56130800	Weak transcription	Aorta	Aorta
2	chr12:56124000-56131200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56124400-56130600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:56124400-56130600	Weak transcription	Placenta	Placenta
5	chr12:56124400-56130800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:56124400-56130800	Weak transcription	Left Ventricle	heart
7	chr12:56124400-56131000	Weak transcription	Colonic Mucosa	Colon
8	chr12:56124400-56131000	Weak transcription	Esophagus	oesophagus
9	chr12:56124400-56131600	Weak transcription	Gastric	stomach
10	chr12:56124600-56126800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:56124600-56130400	Weak transcription	Fetal Intestine Large	intestine
12	chr12:56124600-56130600	Weak transcription	Right Atrium	heart
13	chr12:56124600-56130800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:56124600-56130800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:56124600-56130800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:56124600-56130800	Weak transcription	K562	blood
17	chr12:56124600-56131000	Weak transcription	Primary B cells from cord blood	blood
18	chr12:56124600-56131000	Weak transcription	A549	lung
19	chr12:56124600-56131600	Weak transcription	Spleen	Spleen
20	chr12:56124600-56131800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:56124600-56131800	Weak transcription	NHEK	skin
22	chr12:56124800-56127200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:56124800-56127800	Weak transcription	Fetal Intestine Small	intestine
24	chr12:56124800-56129800	Weak transcription	Brain Germinal Matrix	brain
25	chr12:56124800-56129800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:56124800-56130000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:56124800-56130400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:56124800-56130600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:56124800-56130600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:56124800-56130600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:56124800-56130600	Weak transcription	Brain Substantia Nigra	brain
32	chr12:56124800-56130600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:56124800-56130800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:56124800-56130800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:56124800-56130800	Weak transcription	Fetal Brain Female	brain
36	chr12:56124800-56130800	Weak transcription	Fetal Kidney	kidney
37	chr12:56124800-56130800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:56124800-56130800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:56124800-56131000	Weak transcription	Thymus	Thymus
40	chr12:56124800-56131400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:56125000-56126600	Weak transcription	NHLF	lung
42	chr12:56125000-56129800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:56125000-56130000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:56125000-56130200	Weak transcription	Fetal Heart	heart
45	chr12:56125000-56130600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:56125000-56130600	Weak transcription	Fetal Lung	lung
47	chr12:56125000-56130800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:56125000-56130800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:56125000-56130800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:56125000-56130800	Weak transcription	Brain Inferior Temporal Lobe	brain

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