Variant report

Variant	rs7068
Chromosome Location	chr12:56151291-56151292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56149836..56151992-chr12:56207924..56210313,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12298127	1.00[YRI][hapmap]
rs12824144	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs12827688	1.00[YRI][hapmap]
rs12827896	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs705715	1.00[YRI][hapmap]
rs7308505	1.00[YRI][hapmap]
rs772475	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv469410	chr12:56098038-56170893	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv559004	chr12:56098038-56170893	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56139400-56174600	Weak transcription	Stomach Mucosa	stomach
2	chr12:56141400-56151400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:56141400-56151400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:56141400-56152400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:56141600-56152400	Strong transcription	Fetal Stomach	stomach
6	chr12:56141600-56161400	Strong transcription	Primary T cells from cord blood	blood
7	chr12:56141800-56151600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:56141800-56152400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:56141800-56153600	Strong transcription	Fetal Brain Female	brain
10	chr12:56141800-56157600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:56141800-56158000	Strong transcription	Fetal Intestine Large	intestine
12	chr12:56142000-56154200	Strong transcription	Primary B cells from cord blood	blood
13	chr12:56142000-56191800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:56142200-56161000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:56142200-56162000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:56142400-56154800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:56142400-56155400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:56142400-56155800	Strong transcription	NHLF	lung
19	chr12:56142400-56157400	Strong transcription	Thymus	Thymus
20	chr12:56142400-56161400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:56142600-56157600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:56142600-56157600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:56142600-56158000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:56142600-56161000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:56142600-56161200	Strong transcription	Dnd41	blood
26	chr12:56142600-56162000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:56142800-56154600	Strong transcription	Placenta	Placenta
28	chr12:56142800-56154600	Strong transcription	Osteobl	bone
29	chr12:56142800-56158200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:56143000-56158200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:56143200-56158600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:56143200-56161400	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:56143400-56158000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:56143600-56154600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:56143800-56158200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:56143800-56170000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:56144000-56156000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr12:56144200-56153400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr12:56144200-56154600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:56144400-56155400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:56144400-56156600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:56144600-56154600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:56144600-56155400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:56144600-56155800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr12:56144600-56158000	Strong transcription	HSMM	muscle
46	chr12:56144600-56208800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:56144800-56152800	Strong transcription	Colonic Mucosa	Colon
48	chr12:56144800-56157000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:56144800-56157800	Strong transcription	HepG2	liver
50	chr12:56144800-56158000	Strong transcription	Liver	Liver

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