Variant report

Variant	rs12278252
Chromosome Location	chr11:47867453-47867454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47792091..47794821-chr11:47867403..47869086,2	K562	blood:
2	chr11:47866017..47867576-chr11:47868325..47870238,2	MCF-7	breast:
3	chr11:47663732..47665818-chr11:47865617..47868186,2	K562	blood:

Variant related genes	Relation type
ENSG00000109919	Chromatin interaction
ENSG00000030066	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12279284	1.00[YRI][hapmap]
rs12284831	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
4	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1049835	chr11:47837089-47928822	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv541036	chr11:47837089-47928822	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr11:47790200-47869200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47795400-47868400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:47796200-47868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:47796200-47868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:47796200-47868400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:47796200-47868400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:47796200-47868600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:47796400-47867600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:47796600-47868600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:47798000-47868000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:47831800-47868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:47847000-47868200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:47847600-47868000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:47847600-47868800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:47850000-47867600	Strong transcription	Primary B cells from cord blood	blood
16	chr11:47850000-47868400	Strong transcription	Fetal Lung	lung
17	chr11:47850600-47868400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:47851400-47868600	Strong transcription	Placenta	Placenta
19	chr11:47851800-47867600	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr11:47851800-47868000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:47851800-47868000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:47852200-47867600	Strong transcription	Thymus	Thymus
23	chr11:47852400-47868400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:47852400-47868400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:47853000-47868000	Strong transcription	Fetal Intestine Large	intestine
26	chr11:47853000-47868600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr11:47853600-47868000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:47854000-47868600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:47854200-47868600	Strong transcription	HSMM	muscle
30	chr11:47856600-47869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:47859400-47867600	Strong transcription	Liver	Liver
32	chr11:47860800-47868000	Strong transcription	A549	lung
33	chr11:47861600-47868400	Weak transcription	HUVEC	blood vessel
34	chr11:47862000-47868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:47862200-47868400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:47862600-47867600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:47862600-47867600	Strong transcription	Fetal Stomach	stomach
38	chr11:47862600-47867600	Strong transcription	Ovary	ovary
39	chr11:47862600-47867800	Strong transcription	Fetal Intestine Small	intestine
40	chr11:47863200-47868000	Strong transcription	NHEK	skin
41	chr11:47863600-47868000	Genic enhancers	Dnd41	blood
42	chr11:47864400-47868000	Genic enhancers	Fetal Brain Female	brain
43	chr11:47864600-47868600	Weak transcription	Stomach Mucosa	stomach
44	chr11:47864600-47868600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:47864800-47867600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr11:47864800-47868600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:47864800-47868600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr11:47865000-47869200	Weak transcription	Gastric	stomach
49	chr11:47865200-47868200	Genic enhancers	Hela-S3	cervix
50	chr11:47865400-47868000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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