Variant report

Variant	rs12476993
Chromosome Location	chr2:73963951-73963952
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73963771..73965386-chr2:74005336..74008448,3	MCF-7	breast:
2	chr2:73962060..73965748-chr2:74053469..74057980,4	K562	blood:
3	chr12:58201131..58203130-chr2:73963168..73964881,2	MCF-7	breast:
4	chr2:73957067..73958868-chr2:73963036..73964665,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124356	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000144034	Chromatin interaction
ENSG00000135407	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12466032	1.00[JPT][hapmap]
rs12475234	1.00[AFR][1000 genomes]
rs12616510	0.81[AMR][1000 genomes]
rs17009339	1.00[JPT][hapmap]
rs1806776	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34737250	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs6723002	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874276	chr2:73847024-73964214	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv998315	chr2:73919185-74003998	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1000675	chr2:73919185-74038946	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1003153	chr2:73927235-73975416	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73963000-73964000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:73963000-73964200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:73963200-73964000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:73963200-73964000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:73963200-73964000	Flanking Active TSS	Fetal Kidney	kidney
6	chr2:73963200-73964200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:73963200-73964200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr2:73963200-73964200	Flanking Active TSS	HUVEC	blood vessel
9	chr2:73963200-73964800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:73963200-73964800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:73963200-73965000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:73963200-73965000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:73963200-73965200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:73963200-73965200	Active TSS	K562	blood
15	chr2:73963400-73964000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr2:73963400-73964000	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr2:73963400-73964000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr2:73963400-73964000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr2:73963400-73964000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:73963400-73964000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr2:73963400-73964000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr2:73963400-73964000	Flanking Active TSS	Osteobl	bone
23	chr2:73963400-73964200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr2:73963400-73964400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:73963400-73964600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:73963400-73964800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr2:73963400-73964800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:73963400-73964800	Active TSS	HMEC	breast
29	chr2:73963400-73965000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr2:73963400-73965000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:73963400-73965000	Active TSS	Fetal Intestine Large	intestine
32	chr2:73963400-73965000	Active TSS	NHDF-Ad	bronchial
33	chr2:73963400-73965200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr2:73963400-73965200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:73963400-73965200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:73963400-73965200	Active TSS	A549	lung
37	chr2:73963400-73965200	Active TSS	Hela-S3	cervix
38	chr2:73963400-73965400	Active TSS	NHLF	lung
39	chr2:73963600-73964000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:73963600-73964000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr2:73963600-73964000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:73963600-73964000	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr2:73963600-73964000	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr2:73963600-73964000	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr2:73963600-73964000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr2:73963600-73964000	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr2:73963600-73964000	Flanking Active TSS	Colonic Mucosa	Colon
48	chr2:73963600-73964000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr2:73963600-73964000	Flanking Active TSS	Fetal Lung	lung
50	chr2:73963600-73964000	Flanking Active TSS	Fetal Thymus	thymus

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