Variant report

Variant	rs12511049
Chromosome Location	chr4:57299696-57299697
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr4:57299174-57300723	HEK293-T-REx	kidney:	n/a	n/a
2	ZNF384	chr4:57299287-57299873	GM12878	blood:	n/a	n/a
3	ZNF384	chr4:57299253-57300185	K562	blood:	n/a	n/a
4	RPC155	chr4:57299674-57300331	Hela-S3	cervix:	n/a	n/a
5	IRF1	chr4:57299631-57299802	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:57252573..57255971-chr4:57298663..57303783,6	MCF-7	breast:
2	chr4:57297540..57304787-chr4:57330316..57336934,28	K562	blood:
3	chr4:57298757..57303397-chr4:57395270..57398462,7	K562	blood:
4	chr4:57275711..57277429-chr4:57298915..57301727,2	K562	blood:
5	chr4:57250870..57256080-chr4:57298204..57304153,16	K562	blood:
6	chr4:57298117..57310780-chr4:57324651..57337770,39	MCF-7	breast:
7	chr4:57299474..57303800-chr4:57395386..57399526,7	K562	blood:
8	chr4:57250870..57256510-chr4:57298204..57303491,14	K562	blood:

No data

Variant related genes	Relation type
PAICS	TF binding region
ENSG00000269921	Chromatin interaction
ENSG00000249693	Chromatin interaction
ENSG00000270109	Chromatin interaction
ENSG00000268171	Chromatin interaction
ENSG00000157426	Chromatin interaction
ENSG00000174780	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17086758	1.00[CEU][hapmap]
rs4391105	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs4865116	0.83[JPT][hapmap]
rs7435941	1.00[CEU][hapmap]
rs7693436	1.00[CEU][hapmap]

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	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57264800-57301000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:57265000-57301000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:57272800-57299800	Weak transcription	Primary T cells from cord blood	blood
4	chr4:57272800-57299800	Weak transcription	Fetal Thymus	thymus
5	chr4:57272800-57300000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:57277000-57300000	Weak transcription	HSMM	muscle
7	chr4:57278200-57300200	Weak transcription	Fetal Kidney	kidney
8	chr4:57278200-57300200	Weak transcription	NHDF-Ad	bronchial
9	chr4:57284800-57300400	Weak transcription	Fetal Intestine Small	intestine
10	chr4:57289600-57299800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:57292200-57299800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:57295000-57305000	Active TSS	GM12878-XiMat	blood
13	chr4:57295400-57300000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:57296600-57300400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:57297200-57300000	Weak transcription	Fetal Brain Male	brain
16	chr4:57298200-57299800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:57298400-57300400	Weak transcription	Brain Germinal Matrix	brain
18	chr4:57298400-57305600	Active TSS	Hela-S3	cervix
19	chr4:57298800-57299800	Enhancers	Primary hematopoietic stem cells	blood
20	chr4:57299200-57299800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr4:57299200-57299800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:57299200-57299800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:57299200-57299800	Flanking Active TSS	HepG2	liver
24	chr4:57299200-57300200	Enhancers	Fetal Brain Female	brain
25	chr4:57299200-57300400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr4:57299200-57300400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr4:57299200-57300600	Flanking Active TSS	Dnd41	blood
28	chr4:57299200-57300800	Enhancers	Primary B cells from peripheral blood	blood
29	chr4:57299200-57300800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr4:57299200-57300800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr4:57299200-57302600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:57299200-57304000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:57299200-57304200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr4:57299200-57304400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:57299200-57304400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr4:57299200-57304800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr4:57299200-57305000	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr4:57299200-57305800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr4:57299200-57305800	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:57299200-57305800	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr4:57299400-57299800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr4:57299400-57300400	Enhancers	Fetal Lung	lung
43	chr4:57299400-57300800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:57299400-57301000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:57299400-57301200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:57299400-57301400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:57299400-57304200	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr4:57299400-57304200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:57299400-57304400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:57299400-57304800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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