Variant report

Variant	rs2018645
Chromosome Location	chr4:367300-367301
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF274	chr4:366214-369262	H1-hESC	embryonic stem cell:	n/a	n/a
2	SETDB1	chr4:366544-369288	K562	blood:	n/a	n/a
3	ZNF274	chr4:366307-368886	GM12878	blood:	n/a	n/a
4	SETDB1	chr4:366323-368991	U2OS	brain:	n/a	n/a
5	KAP1	chr4:366728-367867	K562	blood:	n/a	n/a
6	TCF7L2	chr4:366356-367465	MCF-7	breast:	n/a	n/a
7	ZNF274	chr4:366370-369025	NT2-D1	testis:	n/a	n/a
8	ZNF274	chr4:366703-368961	HepG2	liver:	n/a	n/a
9	ZNF274	chr4:366526-368895	K562	blood:	n/a	n/a
10	ZNF143	chr4:366760-367321	H1-hESC	embryonic stem cell:	n/a	n/a
11	KAP1	chr4:366693-368000	HEK293	kidney:	n/a	n/a
12	TCF12	chr4:366519-367633	A549	lung:	n/a	n/a
13	ZNF143	chr4:366919-367309	GM12878	blood:	n/a	n/a
14	ZNF274	chr4:366488-368878	GM08714	blood:	n/a	n/a
15	ZNF274	chr4:365796-370172	K562	blood:	n/a	n/a
16	GATA3	chr4:366587-367346	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:330601..333957-chr4:366120..369581,3	MCF-7	breast:

Variant related genes	Relation type
ZNF141	TF binding region
ENSG00000131127	Chromatin interaction
ENSG00000248564	Chromatin interaction

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

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

rs_ID	r²[population]
rs6828138	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1001899	chr4:68809-517736	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv1010829	chr4:147570-547070	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv536970	chr4:147570-547070	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:333000-374200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:333000-375000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:333400-384800	ZNF genes & repeats	Liver	Liver
4	chr4:335400-382000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:357200-372600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:357200-374000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr4:357400-375000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr4:358400-368800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr4:358400-369400	ZNF genes & repeats	Fetal Brain Female	brain
10	chr4:358400-372600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr4:358400-373400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr4:358400-374000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr4:358400-374000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:358400-374200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr4:358400-377800	ZNF genes & repeats	Dnd41	blood
16	chr4:358400-381600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr4:358600-374000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr4:358600-375000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:359400-368600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:359600-368400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
21	chr4:363600-367800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:364000-368200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:364000-368800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
24	chr4:364200-368000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
25	chr4:364200-368200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:364200-368200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
27	chr4:364200-368400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
28	chr4:364200-368600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr4:364200-368800	ZNF genes & repeats	Brain Hippocampus Middle	brain
30	chr4:364200-374000	ZNF genes & repeats	Fetal Lung	lung
31	chr4:364400-367600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:364400-368400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:364400-368800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:364600-368400	ZNF genes & repeats	Left Ventricle	heart
35	chr4:364800-383400	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr4:365000-367800	ZNF genes & repeats	Thymus	Thymus
37	chr4:365000-368000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:365000-368200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr4:365000-368200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:365000-368200	ZNF genes & repeats	Aorta	Aorta
41	chr4:365000-368200	ZNF genes & repeats	Right Ventricle	heart
42	chr4:365000-368400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
43	chr4:365000-368400	ZNF genes & repeats	Fetal Muscle Leg	muscle
44	chr4:365000-368400	ZNF genes & repeats	Ovary	ovary
45	chr4:365000-368400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
46	chr4:365000-368600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
47	chr4:365000-368600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
48	chr4:365000-369400	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr4:365000-373800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr4:365000-373800	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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