Variant report

Variant	rs12647784
Chromosome Location	chr4:147442094-147442095
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	chr4:147419888..147422305-chr4:147440124..147442502,3	K562	blood:

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

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

rs_ID	r²[population]
rs28578121	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3914628	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147408200-147442200	Weak transcription	Spleen	Spleen
2	chr4:147417600-147442200	Weak transcription	Esophagus	oesophagus
3	chr4:147430600-147442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:147433000-147442200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:147439200-147444400	Active TSS	GM12878-XiMat	blood
6	chr4:147440600-147442200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:147440600-147442200	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr4:147440600-147444200	Active TSS	Psoas Muscle	Psoas
9	chr4:147440800-147442200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr4:147440800-147442200	Flanking Active TSS	HUVEC	blood vessel
11	chr4:147441000-147444200	Active TSS	K562	blood
12	chr4:147441000-147444400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:147441000-147444400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:147441000-147444400	Active TSS	Right Atrium	heart
15	chr4:147441000-147444600	Active TSS	Fetal Brain Female	brain
16	chr4:147441200-147442200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr4:147441200-147442200	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr4:147441200-147442400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:147441200-147442400	Flanking Active TSS	Osteobl	bone
20	chr4:147441200-147442600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:147441200-147442800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:147441200-147444200	Active TSS	Ovary	ovary
23	chr4:147441400-147442200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:147441400-147442200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr4:147441400-147442600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:147441400-147444000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:147441400-147444200	Active TSS	NHLF	lung
28	chr4:147441400-147444400	Active TSS	HMEC	breast
29	chr4:147441400-147444400	Active TSS	NHDF-Ad	bronchial
30	chr4:147441600-147442200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:147441600-147442200	Flanking Active TSS	Fetal Heart	heart
32	chr4:147441600-147442800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:147441600-147442800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr4:147441600-147443800	Active TSS	NH-A	brain
35	chr4:147441600-147444000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:147441600-147444200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:147441800-147442200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:147441800-147442200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:147441800-147442200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr4:147441800-147442200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr4:147441800-147442200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr4:147441800-147442200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:147441800-147442200	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr4:147441800-147442200	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr4:147441800-147442200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr4:147441800-147442200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:147441800-147442200	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr4:147441800-147442200	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr4:147441800-147442200	Flanking Active TSS	Fetal Kidney	kidney
50	chr4:147441800-147442200	Flanking Active TSS	Fetal Lung	lung

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