Variant report

Variant	rs2649914
Chromosome Location	chr12:123257352-123257353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123257117-123257787	GM12892	blood:	n/a	n/a
2	POLR2A	chr12:123257272-123259443	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr12:123256437-123257408	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr12:123257317-123257783	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr12:123257205-123257395	K562	blood:	n/a	n/a
6	POLR2A	chr12:123257295-123258238	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:123256943-123259316	K562	blood:	n/a	n/a
8	POLR2A	chr12:123257285-123257416	A549	lung:	n/a	n/a
9	POLR2A	chr12:123257285-123257407	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:123256835-123257360	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr12:123257300-123257608	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:123256990-123258164	MCF-7	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123236169..123239442-chr12:123257222..123260625,5	MCF-7	breast:
2	chr12:123242966..123245804-chr12:123255360..123258267,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC62	TF binding region
ENSG00000139726	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10847742	0.81[EUR][1000 genomes]
rs10847749	0.81[EUR][1000 genomes]
rs10847751	0.81[EUR][1000 genomes]
rs11059729	1.00[ASN][1000 genomes]
rs1260121	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1696355	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798563	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975761	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649894	0.87[ASN][1000 genomes]
rs2649895	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649896	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649900	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649903	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2656812	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844369	0.81[EUR][1000 genomes]
rs3852535	0.81[EUR][1000 genomes]
rs4038080	0.81[EUR][1000 genomes]
rs4038081	0.81[EUR][1000 genomes]
rs4307760	0.81[EUR][1000 genomes]
rs548349	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489241	0.81[EUR][1000 genomes]
rs651683	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839354	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839355	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839356	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839357	1.00[ASN][1000 genomes]
rs839362	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs967281	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123238400-123258000	Strong transcription	Fetal Muscle Trunk	muscle
2	chr12:123238600-123258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:123238800-123257400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:123238800-123257400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:123238800-123257600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:123238800-123257800	Strong transcription	Fetal Thymus	thymus
7	chr12:123238800-123257800	Strong transcription	Osteobl	bone
8	chr12:123238800-123258000	Strong transcription	Placenta	Placenta
9	chr12:123239000-123257400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:123239000-123257600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:123239200-123257400	Strong transcription	A549	lung
12	chr12:123239200-123257800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:123239400-123257800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:123239400-123258000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:123239600-123258600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:123239800-123257800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:123240400-123257800	Strong transcription	Fetal Brain Female	brain
18	chr12:123241400-123257600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:123242000-123257800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:123242000-123258600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:123242400-123258600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:123243800-123258600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:123244800-123258800	Strong transcription	Dnd41	blood
24	chr12:123245800-123257600	Strong transcription	HSMM	muscle
25	chr12:123247400-123258000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:123247800-123257800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:123247800-123258600	Weak transcription	Right Atrium	heart
28	chr12:123248800-123257600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:123251200-123258600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:123251200-123259600	Weak transcription	Fetal Heart	heart
31	chr12:123251400-123258400	Weak transcription	Stomach Mucosa	stomach
32	chr12:123251400-123258600	Weak transcription	Pancreas	Pancrea
33	chr12:123251600-123258600	Weak transcription	Lung	lung
34	chr12:123251600-123258800	Weak transcription	Esophagus	oesophagus
35	chr12:123252000-123258600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:123252600-123258200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:123252600-123258400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:123252600-123258600	Weak transcription	Fetal Brain Male	brain
39	chr12:123252600-123258600	Weak transcription	Fetal Kidney	kidney
40	chr12:123252600-123258800	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:123252800-123258400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:123252800-123258600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:123252800-123258600	Weak transcription	Psoas Muscle	Psoas
44	chr12:123252800-123258800	Weak transcription	Small Intestine	intestine
45	chr12:123253000-123258400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:123253000-123258600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:123253000-123258600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr12:123253000-123258600	Weak transcription	Brain Angular Gyrus	brain
49	chr12:123253000-123258600	Weak transcription	Brain Substantia Nigra	brain
50	chr12:123253000-123258800	Weak transcription	Aorta	Aorta

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