Variant report

Variant	rs714879
Chromosome Location	chr2:148625027-148625028
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	chr2:148613084..148614805-chr2:148624433..148625957,2	MCF-7	breast:
2	chr2:148601612..148603246-chr2:148623502..148625352,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121989	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17218987	0.96[AFR][1000 genomes];1.00[AMR][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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148606000-148627600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:148613000-148627400	Weak transcription	Pancreas	Pancrea
3	chr2:148613000-148640800	Weak transcription	Lung	lung
4	chr2:148613200-148625600	Weak transcription	Right Atrium	heart
5	chr2:148613200-148631400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:148615800-148626200	Weak transcription	Ovary	ovary
7	chr2:148616800-148636200	Weak transcription	Small Intestine	intestine
8	chr2:148618000-148625400	Weak transcription	Right Ventricle	heart
9	chr2:148618000-148625600	Weak transcription	HSMMtube	muscle
10	chr2:148618000-148627400	Weak transcription	Fetal Brain Male	brain
11	chr2:148618000-148627400	Weak transcription	Gastric	stomach
12	chr2:148618400-148626800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:148618400-148627400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:148618600-148626800	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:148618600-148627000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:148620000-148634000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:148620600-148634200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:148620800-148627000	Weak transcription	Fetal Intestine Small	intestine
19	chr2:148620800-148640000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:148621000-148625400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:148621000-148627000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:148621000-148627400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:148621200-148626800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:148621200-148633600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:148621400-148633200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:148621400-148637000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:148621600-148631400	Weak transcription	Stomach Mucosa	stomach
28	chr2:148621600-148641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:148621800-148628000	Weak transcription	HMEC	breast
30	chr2:148622000-148626200	Weak transcription	HUVEC	blood vessel
31	chr2:148623200-148625600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:148623200-148627000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:148623400-148625200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:148623600-148642600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:148623800-148626800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:148623800-148627000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:148624000-148625400	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:148624000-148625400	Weak transcription	Psoas Muscle	Psoas
39	chr2:148624000-148626000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:148624000-148626800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:148624000-148626800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:148624200-148625400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:148624200-148625400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr2:148624200-148625800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr2:148624200-148625800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr2:148624400-148625200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr2:148624400-148625600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:148624400-148625800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:148624400-148626800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:148624400-148627000	Enhancers	Primary hematopoietic stem cells	blood

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