Variant report

Variant	rs1667
Chromosome Location	chr12:46864731-46864732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46859836..46862512-chr12:46864660..46866357,2	MCF-7	breast:
2	chr12:46763940..46766014-chr12:46863555..46865794,3	K562	blood:
3	chr12:46857414..46859341-chr12:46861249..46864836,4	K562	blood:

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11183504	1.00[LWK][hapmap]
rs11183521	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs1472178	1.00[LWK][hapmap]
rs2131371	1.00[LWK][hapmap]
rs2252238	1.00[LWK][hapmap]
rs4077708	1.00[LWK][hapmap]
rs4768123	1.00[LWK][hapmap]
rs4768716	1.00[LWK][hapmap]

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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1667	HIST1H2AE	trans	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46844600-46866000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:46853200-46867400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:46854800-46866000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:46856000-46864800	Weak transcription	Small Intestine	intestine
6	chr12:46856000-46867800	Weak transcription	Aorta	Aorta
7	chr12:46856200-46866000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:46856200-46866200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:46856200-46868200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:46856600-46867400	Weak transcription	Placenta	Placenta
11	chr12:46857800-46864800	Weak transcription	Ovary	ovary
12	chr12:46858800-46867400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:46860000-46866000	Weak transcription	K562	blood
14	chr12:46860000-46866200	Weak transcription	Fetal Intestine Small	intestine
15	chr12:46860200-46867400	Enhancers	Hela-S3	cervix
16	chr12:46860800-46866800	Enhancers	HUVEC	blood vessel
17	chr12:46861200-46867000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:46861400-46866600	Enhancers	A549	lung
19	chr12:46861600-46864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:46861600-46864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:46862200-46864800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:46862200-46864800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:46862400-46864800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:46862400-46864800	Weak transcription	NHEK	skin
25	chr12:46862600-46864800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:46862600-46864800	Weak transcription	Stomach Mucosa	stomach
27	chr12:46862600-46865200	Weak transcription	NH-A	brain
28	chr12:46863200-46867400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:46863400-46865000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:46863400-46867400	Enhancers	Primary hematopoietic stem cells	blood
31	chr12:46863600-46865400	Enhancers	Fetal Heart	heart
32	chr12:46863800-46865000	Enhancers	Left Ventricle	heart
33	chr12:46863800-46865400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:46863800-46866600	Enhancers	HepG2	liver
35	chr12:46863800-46866800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:46863800-46867000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:46863800-46867200	Enhancers	Duodenum Mucosa	Duodenum
38	chr12:46863800-46867400	Enhancers	Fetal Lung	lung
39	chr12:46863800-46867600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:46863800-46867600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:46864000-46864800	Weak transcription	Osteobl	bone
42	chr12:46864000-46865000	Enhancers	Right Atrium	heart
43	chr12:46864000-46867600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:46864000-46867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:46864000-46867600	Enhancers	NHDF-Ad	bronchial
46	chr12:46864000-46868600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:46864200-46864800	Weak transcription	Spleen	Spleen
48	chr12:46864200-46865400	Enhancers	Lung	lung
49	chr12:46864200-46866000	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:46864200-46866400	Weak transcription	Monocytes-CD14+_RO01746	blood

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