Variant report

Variant	rs201229780
Chromosome Location	chr12:121440828-121440829
allele	-/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	POLR2A	chr12:121438511-121442806	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121429573..121435133-chr12:121436242..121441204,7	K562	blood:
2	chr12:121437329..121439942-chr12:121440076..121441663,2	K562	blood:

Variant related genes	Relation type
ENSG00000271769	TF binding region
ENSG00000135100	Chromatin interaction
ENSG00000271769	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121418600-121441000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:121419600-121441000	Weak transcription	Small Intestine	intestine
3	chr12:121427600-121442600	Strong transcription	Fetal Intestine Large	intestine
4	chr12:121427800-121441200	Strong transcription	Fetal Intestine Small	intestine
5	chr12:121429800-121442000	Strong transcription	Duodenum Mucosa	Duodenum
6	chr12:121429800-121451600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr12:121432600-121441200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:121433200-121448200	Weak transcription	Fetal Kidney	kidney
9	chr12:121435400-121441200	Weak transcription	HSMM	muscle
10	chr12:121436000-121441200	Weak transcription	NHEK	skin
11	chr12:121436400-121441200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:121436600-121452800	Weak transcription	Fetal Heart	heart
13	chr12:121436800-121441000	Weak transcription	Brain Angular Gyrus	brain
14	chr12:121436800-121441000	Weak transcription	HSMMtube	muscle
15	chr12:121436800-121442000	Weak transcription	GM12878-XiMat	blood
16	chr12:121436800-121442400	Weak transcription	Hela-S3	cervix
17	chr12:121437000-121441000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:121437200-121441000	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:121437200-121441200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:121437400-121441200	Weak transcription	Primary B cells from cord blood	blood
21	chr12:121437400-121442800	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:121437600-121452000	Strong transcription	Fetal Stomach	stomach
23	chr12:121437600-121453000	Weak transcription	Fetal Brain Male	brain
24	chr12:121437600-121453600	Weak transcription	Right Atrium	heart
25	chr12:121437800-121441000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:121437800-121441600	Weak transcription	Aorta	Aorta
27	chr12:121437800-121441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:121437800-121451200	Strong transcription	A549	lung
29	chr12:121438000-121441000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:121438000-121441200	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:121438000-121442000	Strong transcription	Liver	Liver
32	chr12:121438000-121442400	Strong transcription	Pancreas	Pancrea
33	chr12:121438200-121441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:121438200-121441000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:121438200-121441200	Weak transcription	NH-A	brain
36	chr12:121438400-121448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:121438400-121451200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:121438400-121451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:121438600-121441200	Weak transcription	Brain Substantia Nigra	brain
40	chr12:121438600-121442600	Strong transcription	Colonic Mucosa	Colon
41	chr12:121438600-121444800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:121438600-121445000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:121438600-121449000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:121438600-121451200	Strong transcription	Spleen	Spleen
45	chr12:121438600-121451400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:121438600-121451400	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:121438600-121451600	Strong transcription	Primary T cells from cord blood	blood
48	chr12:121438600-121451800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr12:121438800-121441000	Weak transcription	HMEC	breast
50	chr12:121438800-121441600	Weak transcription	Psoas Muscle	Psoas

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