Variant report

Variant	rs566072643
Chromosome Location	chr12:4108662-4108663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4107032..4110913-chr12:4140387..4144108,4	MCF-7	breast:
2	chr12:4107365..4111293-chr12:4136025..4140047,4	MCF-7	breast:
3	chr12:4106157..4109140-chr12:4146186..4148270,2	MCF-7	breast:
4	chr12:4108194..4110971-chr12:4140017..4143588,4	MCF-7	breast:
5	chr12:4105433..4107342-chr12:4107411..4109246,2	MCF-7	breast:
6	chr12:4108613..4110875-chr12:4120970..4124448,3	MCF-7	breast:
7	chr12:4104391..4106622-chr12:4107438..4109627,2	MCF-7	breast:
8	chr12:4107368..4109265-chr12:4110161..4111964,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832316	chr12:3981184-4180381	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2761723	chr12:4096815-4161871	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv13469	chr12:4107971-4109977	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv468982	chr12:4108513-4164815	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised 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	1 gene(s)	inside rSNPs	diseases
6	nsv557120	chr12:4108513-4164815	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4099000-4109200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:4104000-4109800	Enhancers	Placenta	Placenta
3	chr12:4104000-4110200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:4104200-4109800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:4104600-4110000	Enhancers	HepG2	liver
6	chr12:4104800-4109800	Enhancers	Pancreas	Pancrea
7	chr12:4105200-4109800	Enhancers	Fetal Intestine Large	intestine
8	chr12:4105400-4109400	Enhancers	Primary T cells from cord blood	blood
9	chr12:4105400-4109800	Enhancers	Fetal Intestine Small	intestine
10	chr12:4105800-4108800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:4106800-4108800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:4106800-4109200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:4106800-4109800	Enhancers	Fetal Muscle Leg	muscle
14	chr12:4107000-4112600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr12:4107400-4108800	Enhancers	Fetal Muscle Trunk	muscle
16	chr12:4107400-4109400	Enhancers	Fetal Thymus	thymus
17	chr12:4107400-4109600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:4107400-4109800	Enhancers	NHEK	skin
19	chr12:4107600-4110000	Enhancers	HMEC	breast
20	chr12:4107600-4121600	Weak transcription	Esophagus	oesophagus
21	chr12:4107800-4108800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:4107800-4109400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr12:4108000-4109800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:4108000-4109800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:4108200-4109200	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:4108200-4110000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr12:4108400-4108800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr12:4108400-4108800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:4108400-4108800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:4108400-4108800	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr12:4108400-4108800	Active TSS	Spleen	Spleen
32	chr12:4108400-4109000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:4108400-4109000	Enhancers	Stomach Mucosa	stomach
34	chr12:4108400-4109400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr12:4108600-4108800	Enhancers	Fetal Stomach	stomach
36	chr12:4108600-4109000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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