Variant report

Variant	rs12464787
Chromosome Location	chr2:179440029-179440030
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	chr2:179434791..179437308-chr2:179438130..179440341,2	K562	blood:
2	chr2:179432790..179436322-chr2:179437819..179441282,4	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12463674	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026251	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs35833641	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36051007	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3820979	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

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	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2757841	chr2:179409072-179608242	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2759103	chr2:179409072-179608242	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1000642	chr2:179438866-179503211	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179388800-179441800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:179388800-179448800	Weak transcription	Small Intestine	intestine
3	chr2:179388800-179495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:179396000-179445400	Strong transcription	Right Ventricle	heart
5	chr2:179408000-179503000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:179411000-179466000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:179411200-179440200	Weak transcription	Colonic Mucosa	Colon
8	chr2:179412000-179441000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:179414000-179443400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:179414800-179471800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:179417800-179441800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:179418200-179443200	Weak transcription	NHLF	lung
13	chr2:179418400-179450200	Strong transcription	HSMMtube	muscle
14	chr2:179424000-179442200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:179424200-179442400	Strong transcription	Ovary	ovary
16	chr2:179424600-179443000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:179424800-179443000	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr2:179424800-179445200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:179425800-179440400	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr2:179425800-179446800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:179426200-179442200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr2:179427800-179443800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:179428000-179442200	Strong transcription	Liver	Liver
24	chr2:179428400-179443800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:179428400-179478600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:179429400-179448400	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:179429800-179441800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:179430800-179480000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:179431800-179441400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:179433200-179440600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:179433400-179443200	Weak transcription	Fetal Kidney	kidney
32	chr2:179434800-179440600	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr2:179434800-179440800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr2:179434800-179450000	Strong transcription	Fetal Intestine Large	intestine
35	chr2:179435200-179469800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:179435400-179443000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:179435400-179450200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr2:179435600-179443800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:179435800-179442400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:179436000-179442200	Strong transcription	Spleen	Spleen
41	chr2:179436200-179440600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:179436200-179440800	Weak transcription	HSMM	muscle
43	chr2:179436600-179441600	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr2:179436600-179442200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:179436600-179442800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr2:179436600-179444800	Strong transcription	Pancreas	Pancrea
47	chr2:179436600-179463400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:179436800-179440800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:179437000-179440200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:179437200-179442200	Strong transcription	K562	blood

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