Variant report

Variant	rs141640244
Chromosome Location	chr12:67716236-67716237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67713525..67718128-chr12:67719850..67722693,5	MCF-7	breast:
2	chr12:67712478..67714489-chr12:67715652..67718009,2	K562	blood:
3	chr12:67716222..67717888-chr12:67718984..67721962,2	MCF-7	breast:
4	chr12:67714913..67718592-chr12:67718971..67722103,3	K562	blood:
5	chr12:67662800..67665177-chr12:67715531..67717213,2	MCF-7	breast:
6	chr12:67661017..67663110-chr12:67715146..67717539,2	K562	blood:

Variant related genes	Relation type
ENSG00000111530	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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv756	chr12:67703587-67744743	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv3370187	chr12:67716212-67716444	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67686000-67717000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:67688200-67717000	Strong transcription	NH-A	brain
3	chr12:67700200-67717600	Weak transcription	Gastric	stomach
4	chr12:67700600-67717400	Weak transcription	Psoas Muscle	Psoas
5	chr12:67706200-67716400	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:67706600-67720600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:67706800-67716600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:67708600-67716400	Weak transcription	NHDF-Ad	bronchial
9	chr12:67708800-67717200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:67708800-67717800	Weak transcription	Brain Anterior Caudate	brain
11	chr12:67709800-67716600	Strong transcription	HSMM	muscle
12	chr12:67709800-67716800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:67710000-67717400	Strong transcription	A549	lung
14	chr12:67710200-67716400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:67710400-67716800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:67710400-67717000	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr12:67710600-67716400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:67710600-67717000	Strong transcription	Thymus	Thymus
19	chr12:67710800-67717200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:67711000-67717600	Weak transcription	HUVEC	blood vessel
21	chr12:67711200-67717400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:67711200-67721400	Weak transcription	Fetal Brain Female	brain
23	chr12:67712000-67717200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:67712800-67718000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:67713400-67716800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:67713400-67718000	Weak transcription	NHLF	lung
27	chr12:67713400-67725000	Weak transcription	Dnd41	blood
28	chr12:67713600-67720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:67714200-67717800	Strong transcription	HSMMtube	muscle
30	chr12:67714400-67719000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:67714800-67716400	Weak transcription	GM12878-XiMat	blood
32	chr12:67715200-67716600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:67715200-67716600	Strong transcription	HMEC	breast
34	chr12:67715200-67716800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:67715200-67718000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr12:67715200-67718200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr12:67715400-67717400	Weak transcription	Primary T cells from cord blood	blood
38	chr12:67715400-67717600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:67715600-67716400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr12:67715600-67718400	Weak transcription	NHEK	skin
41	chr12:67715800-67716400	Strong transcription	Fetal Thymus	thymus
42	chr12:67715800-67716600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr12:67715800-67716600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:67715800-67717600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:67715800-67717800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:67715800-67718000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr12:67716000-67716400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:67716000-67716400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr12:67716000-67716400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:67716000-67716600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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