Variant report

Variant	rs547167563
Chromosome Location	chr12:122227445-122227446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122222027..122223531-chr12:122224930..122227928,2	MCF-7	breast:
2	chr12:122219448..122221422-chr12:122224935..122227842,2	MCF-7	breast:
3	chr12:122223822..122227581-chr12:122228011..122233010,8	K562	blood:
4	chr12:122134034..122138136-chr12:122226162..122228726,3	MCF-7	breast:
5	chr12:122188669..122193873-chr12:122227176..122233304,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188735	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122206400-122228200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
3	chr12:122211600-122231200	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:122211800-122231600	Weak transcription	Brain Substantia Nigra	brain
5	chr12:122214200-122228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:122217800-122230400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:122219000-122229800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:122219200-122230600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:122219200-122230600	Weak transcription	Fetal Brain Female	brain
10	chr12:122219600-122230800	Weak transcription	Brain Germinal Matrix	brain
11	chr12:122220400-122230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:122220400-122230600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:122220600-122228000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:122220600-122230400	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:122220600-122230400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:122220800-122227600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:122220800-122228000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:122220800-122228200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:122220800-122229600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:122221200-122230600	Weak transcription	Right Atrium	heart
21	chr12:122223200-122228000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:122223200-122231400	Weak transcription	HSMM	muscle
23	chr12:122223600-122228600	Enhancers	Placenta	Placenta
24	chr12:122224000-122229400	Genic enhancers	Fetal Intestine Small	intestine
25	chr12:122224200-122228400	Enhancers	Stomach Mucosa	stomach
26	chr12:122224200-122228800	Genic enhancers	Fetal Intestine Large	intestine
27	chr12:122224200-122229000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:122224400-122227600	Enhancers	Small Intestine	intestine
29	chr12:122224400-122227800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr12:122224600-122227600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:122224600-122231200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:122224800-122231000	Weak transcription	Osteobl	bone
33	chr12:122225200-122229400	Weak transcription	HMEC	breast
34	chr12:122225200-122229600	Weak transcription	NHEK	skin
35	chr12:122225200-122231400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:122225400-122227800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:122225400-122228000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:122225400-122228200	Weak transcription	Gastric	stomach
39	chr12:122225400-122229600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:122225400-122229600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:122225400-122230000	Enhancers	Spleen	Spleen
42	chr12:122225400-122231000	Weak transcription	Pancreas	Pancrea
43	chr12:122225600-122230400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:122225800-122228800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr12:122225800-122233200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr12:122226000-122228800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr12:122226000-122228800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:122226000-122228800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:122226000-122228800	Flanking Active TSS	GM12878-XiMat	blood
50	chr12:122226000-122229600	Transcr. at gene 5' and 3'	Hela-S3	cervix

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