Variant report

Variant	rs1070968
Chromosome Location	chr4:2480271-2480272
allele	A/G
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	POLR2A	chr4:2480017-2480859	GM12892	blood:	n/a	n/a
2	POLR2A	chr4:2480079-2480422	K562	blood:	n/a	n/a
3	FOXP2	chr4:2479947-2480336	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr4:2480007-2480896	GM12878	blood:	n/a	n/a
5	EBF1	chr4:2479819-2480301	GM12878	blood:	n/a	chr4:2480127-2480138
6	POLR2A	chr4:2479794-2480801	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr4:2479827-2480397	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr4:2479993-2480294	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:2480006-2480869	K562	blood:	n/a	n/a
10	CTCF	chr4:2480160-2480310	AG09309	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2468621..2471584-chr4:2480152..2483219,4	K562	blood:
2	chr4:2476317..2480825-chr4:2482258..2487821,8	K562	blood:

Variant related genes	Relation type
RNF4	TF binding region
ENSG00000063978	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1203847	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1203848	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1203857	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432548	chr4:1725009-2652494	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	99 gene(s)	inside rSNPs	diseases
3	nsv1012665	chr4:2045458-2517751	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1009347	chr4:2202662-2517790	Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv878433	chr4:2344692-2486486	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv518472	chr4:2348405-2516418	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv878435	chr4:2386411-2486486	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv878438	chr4:2397084-2486486	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv878441	chr4:2413461-2486486	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1010352	chr4:2433199-2481963	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2472000-2494400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:2472400-2483000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:2472600-2486600	Weak transcription	HSMMtube	muscle
4	chr4:2472600-2502400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:2472800-2480800	Strong transcription	Fetal Stomach	stomach
6	chr4:2472800-2482600	Weak transcription	Fetal Brain Male	brain
7	chr4:2473000-2485000	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr4:2473600-2486400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:2473600-2491000	Weak transcription	Aorta	Aorta
10	chr4:2474000-2484000	Weak transcription	NHEK	skin
11	chr4:2474000-2484400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr4:2474200-2483400	Weak transcription	Fetal Lung	lung
13	chr4:2474200-2484000	Weak transcription	HMEC	breast
14	chr4:2474200-2484200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:2474200-2486600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:2474200-2491000	Weak transcription	Hela-S3	cervix
17	chr4:2474400-2483800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:2474400-2484000	Weak transcription	NH-A	brain
19	chr4:2474600-2484000	Weak transcription	Osteobl	bone
20	chr4:2474800-2481800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr4:2475000-2485200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:2475200-2482600	Weak transcription	Fetal Brain Female	brain
23	chr4:2475200-2484200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:2475200-2484800	Weak transcription	NHLF	lung
25	chr4:2475200-2486400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:2475400-2484000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:2475400-2484000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:2475400-2490200	Weak transcription	A549	lung
29	chr4:2475400-2518600	Strong transcription	Dnd41	blood
30	chr4:2475600-2484000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr4:2475600-2484000	Weak transcription	Brain Germinal Matrix	brain
32	chr4:2476000-2486400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:2476200-2486200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr4:2476600-2482800	Enhancers	HepG2	liver
35	chr4:2477000-2518600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:2477400-2480400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:2477400-2480600	Enhancers	Right Ventricle	heart
38	chr4:2477400-2485200	Enhancers	Small Intestine	intestine
39	chr4:2477400-2486400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr4:2477600-2481600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr4:2477600-2483000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr4:2477800-2481600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr4:2478000-2480800	Enhancers	K562	blood
44	chr4:2478000-2482400	Weak transcription	Fetal Heart	heart
45	chr4:2478000-2490200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:2478200-2482600	Weak transcription	HUVEC	blood vessel
47	chr4:2478200-2484600	Weak transcription	HSMM	muscle
48	chr4:2478200-2486000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr4:2478600-2480600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:2478600-2481200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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