Variant report

Variant	rs12498172
Chromosome Location	chr4:48764959-48764960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48763131..48767010-chr4:48780042..48783198,3	K562	blood:

Variant related genes	Relation type
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11726035	1.00[LWK][hapmap]
rs1712763	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48731600-48779800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:48742000-48768400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:48742600-48768200	Weak transcription	Pancreas	Pancrea
4	chr4:48745000-48765200	Weak transcription	Primary B cells from cord blood	blood
5	chr4:48747200-48777200	Weak transcription	Fetal Intestine Small	intestine
6	chr4:48747400-48767800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:48749200-48768200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:48751000-48768400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:48751600-48777200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:48752000-48767000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:48752400-48765200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:48754600-48768000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:48754800-48774200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:48755000-48767400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:48755000-48773600	Weak transcription	Aorta	Aorta
16	chr4:48755200-48765200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:48755200-48765400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:48755200-48768400	Weak transcription	Fetal Thymus	thymus
19	chr4:48755200-48769400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr4:48755200-48774200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:48755400-48768200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:48755400-48775600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:48755600-48774800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:48756000-48773000	Weak transcription	HUVEC	blood vessel
25	chr4:48756000-48774800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:48756200-48774200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:48756600-48768600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:48756600-48769600	Weak transcription	Primary T cells from cord blood	blood
29	chr4:48759000-48765200	Weak transcription	Lung	lung
30	chr4:48759000-48768200	Weak transcription	Brain Substantia Nigra	brain
31	chr4:48759000-48775600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:48759000-48778600	Weak transcription	Fetal Stomach	stomach
33	chr4:48759200-48768200	Weak transcription	Small Intestine	intestine
34	chr4:48759200-48769200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:48759200-48769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:48759200-48775400	Weak transcription	NHEK	skin
37	chr4:48759200-48775600	Weak transcription	HMEC	breast
38	chr4:48761000-48779800	Weak transcription	Placenta	Placenta
39	chr4:48761200-48768200	Weak transcription	Esophagus	oesophagus
40	chr4:48761600-48768400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:48761600-48768400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:48761800-48767200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:48761800-48768400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:48761800-48769200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:48762000-48766000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:48762000-48768400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:48762000-48768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:48762000-48769200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:48762000-48769200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:48762000-48775200	Weak transcription	Fetal Lung	lung

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