Variant report

Variant	rs12615078
Chromosome Location	chr2:128477467-128477468
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128458146..128460795-chr2:128475414..128478588,3	MCF-7	breast:
2	chr2:128475730..128478412-chr2:128497111..128498762,2	MCF-7	breast:
3	chr2:128457592..128460883-chr2:128471804..128479622,12	MCF-7	breast:
4	chr2:128470706..128473379-chr2:128476446..128477957,2	MCF-7	breast:
5	chr2:128468155..128475493-chr2:128475660..128479860,9	MCF-7	breast:
6	chr2:128474798..128481171-chr2:128482515..128488388,6	MCF-7	breast:
7	chr2:128464475..128466181-chr2:128476440..128478090,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173349	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11693223	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004877	chr2:128299079-128479640	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv875015	chr2:128305196-128495645	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv428726	chr2:128387756-128539894	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv875030	chr2:128399414-128495645	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	36 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	chr2:128460400-128483000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:128460400-128520000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:128461200-128482800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:128461200-128485600	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:128463000-128479400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:128463000-128480200	Strong transcription	Primary T cells from cord blood	blood
7	chr2:128463200-128479400	Weak transcription	Stomach Mucosa	stomach
8	chr2:128463400-128484800	Strong transcription	Thymus	Thymus
9	chr2:128466400-128481800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr2:128466400-128490200	Weak transcription	Right Atrium	heart
11	chr2:128466800-128479000	Weak transcription	Fetal Brain Male	brain
12	chr2:128469600-128484400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:128469800-128482600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:128470000-128482800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:128470000-128483000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:128470000-128484600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:128471000-128480000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr2:128471000-128482600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:128471000-128482600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:128471200-128482600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:128471200-128482800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:128471200-128482800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:128471200-128484400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:128471600-128482800	Strong transcription	Primary B cells from cord blood	blood
25	chr2:128471800-128482800	Strong transcription	GM12878-XiMat	blood
26	chr2:128472800-128483000	Strong transcription	Fetal Thymus	thymus
27	chr2:128472800-128483000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:128473000-128478800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:128473000-128479200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr2:128473000-128479400	Strong transcription	HSMM	muscle
31	chr2:128473000-128480200	Strong transcription	Fetal Muscle Leg	muscle
32	chr2:128473000-128482400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:128473000-128482600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:128473000-128484000	Strong transcription	Dnd41	blood
35	chr2:128473200-128482400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:128473200-128482800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:128473400-128478600	Strong transcription	HMEC	breast
38	chr2:128473600-128482600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr2:128473600-128482800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:128473800-128481000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:128473800-128481200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:128473800-128482600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:128473800-128484600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:128474000-128480000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:128474000-128481000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:128474200-128481000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:128474200-128482200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr2:128474200-128484000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:128474400-128480000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:128474800-128479400	Weak transcription	Fetal Heart	heart

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