Variant report

Variant	rs3782348
Chromosome Location	chr12:66637485-66637486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66563793..66565375-chr12:66636281..66639224,2	K562	blood:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11176095	0.86[CHB][hapmap];0.87[GIH][hapmap]
rs1152911	0.88[GIH][hapmap]
rs1152914	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1152915	0.92[ASN][1000 genomes]
rs1152918	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12581836	0.81[CHB][hapmap]

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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66615600-66643400	Weak transcription	Stomach Mucosa	stomach
2	chr12:66629400-66639800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:66629400-66639800	Weak transcription	Spleen	Spleen
4	chr12:66629400-66641800	Weak transcription	Esophagus	oesophagus
5	chr12:66629400-66645000	Weak transcription	Right Ventricle	heart
6	chr12:66629400-66645400	Weak transcription	Gastric	stomach
7	chr12:66629600-66639200	Weak transcription	Ovary	ovary
8	chr12:66629600-66643800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:66629800-66644000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:66631000-66650000	Weak transcription	Psoas Muscle	Psoas
11	chr12:66631800-66644800	Weak transcription	GM12878-XiMat	blood
12	chr12:66632000-66644400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:66632400-66641600	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:66633200-66646400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:66633600-66637600	Strong transcription	Fetal Lung	lung
16	chr12:66634000-66640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:66634200-66638600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:66634400-66638800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:66634400-66645800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:66634600-66640000	Weak transcription	Lung	lung
21	chr12:66634600-66641400	Weak transcription	Thymus	Thymus
22	chr12:66634600-66643400	Weak transcription	Fetal Stomach	stomach
23	chr12:66635000-66642400	Strong transcription	Primary hematopoietic stem cells	blood
24	chr12:66636000-66639800	Weak transcription	Adipose Nuclei	Adipose
25	chr12:66636200-66638200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:66636200-66638400	Weak transcription	HSMMtube	muscle
27	chr12:66636200-66638600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:66636200-66638800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:66636200-66639800	Weak transcription	NHDF-Ad	bronchial
30	chr12:66636200-66646600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:66636400-66637800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:66636400-66638200	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:66636400-66638800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:66636400-66646800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:66636600-66644000	Weak transcription	Primary B cells from cord blood	blood
36	chr12:66636600-66645600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:66636600-66649600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:66636800-66638200	Weak transcription	Placenta	Placenta
39	chr12:66636800-66639600	Weak transcription	Liver	Liver
40	chr12:66637000-66638200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:66637000-66640000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:66637200-66637600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:66637200-66637800	Strong transcription	Aorta	Aorta
44	chr12:66637200-66638000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
45	chr12:66637200-66638200	Weak transcription	HSMM	muscle
46	chr12:66637200-66641000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:66637400-66637600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:66637400-66637600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr12:66637400-66637600	Enhancers	Right Atrium	heart
50	chr12:66637400-66637800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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