Variant report

Variant	rs3217760
Chromosome Location	chr4:122743793-122743794
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:122743728..122745720-chr4:123072564..123074276,2	MCF-7	breast:
2	chr4:122730694..122733208-chr4:122742795..122745639,3	MCF-7	breast:
3	chr4:122743250..122744913-chr4:122837941..122840294,2	K562	blood:
4	chr4:122743665..122745647-chr4:122789959..122792844,2	K562	blood:
5	chr4:122719927..122724442-chr4:122741540..122746604,11	MCF-7	breast:
6	chr4:122722789..122724421-chr4:122743647..122745561,2	MCF-7	breast:
7	chr4:122743419..122745075-chr4:122767159..122769948,2	MCF-7	breast:
8	chr4:122743548..122747768-chr4:122748127..122751699,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138686	Chromatin interaction
ENSG00000138688	Chromatin interaction
ENSG00000123737	Chromatin interaction
ENSG00000261501	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12644087	1.00[ASW][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3217782	1.00[AMR][1000 genomes]
rs3805159	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4077755	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41462746	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs4256243	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs57880593	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58062096	1.00[AMR][1000 genomes]
rs59323263	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59971648	1.00[AMR][1000 genomes]
rs60712265	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61097039	1.00[AMR][1000 genomes]
rs61300303	1.00[AMR][1000 genomes]
rs72919937	1.00[AMR][1000 genomes]
rs7675328	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122723000-122744200	Weak transcription	Gastric	stomach
2	chr4:122723000-122744600	Weak transcription	Aorta	Aorta
3	chr4:122723200-122743800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:122723400-122744200	Weak transcription	Stomach Mucosa	stomach
5	chr4:122724400-122744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:122730200-122744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:122730400-122743800	Weak transcription	Spleen	Spleen
8	chr4:122730600-122744200	Weak transcription	Lung	lung
9	chr4:122733200-122744200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:122734000-122744000	Weak transcription	Pancreas	Pancrea
11	chr4:122735200-122744400	Weak transcription	Psoas Muscle	Psoas
12	chr4:122735200-122744400	Weak transcription	Right Ventricle	heart
13	chr4:122737200-122743800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:122737400-122744000	Weak transcription	Colonic Mucosa	Colon
15	chr4:122737400-122744000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:122738400-122743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:122738400-122744000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:122739200-122744000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:122739200-122744000	Weak transcription	Brain Substantia Nigra	brain
20	chr4:122739600-122744000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:122739600-122744000	Weak transcription	Liver	Liver
22	chr4:122739600-122744200	Weak transcription	Brain Angular Gyrus	brain
23	chr4:122739600-122744200	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:122739800-122743800	Weak transcription	Brain Anterior Caudate	brain
25	chr4:122739800-122743800	Weak transcription	HSMMtube	muscle
26	chr4:122739800-122744200	Weak transcription	Fetal Brain Male	brain
27	chr4:122739800-122744200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:122739800-122744200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:122740000-122744200	Weak transcription	Ovary	ovary
30	chr4:122740200-122744000	Weak transcription	Adipose Nuclei	Adipose
31	chr4:122740200-122744400	Weak transcription	Left Ventricle	heart
32	chr4:122740400-122743800	Weak transcription	Placenta	Placenta
33	chr4:122740400-122744000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:122740400-122744400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:122740600-122743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:122740600-122744000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:122740600-122744200	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:122741200-122744000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr4:122741400-122744800	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr4:122742000-122744400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:122742200-122744000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr4:122742400-122743800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:122742400-122743800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
44	chr4:122742400-122744200	Transcr. at gene 5' and 3'	K562	blood
45	chr4:122742600-122743800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:122742600-122743800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
47	chr4:122742600-122744000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr4:122742600-122745400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:122742600-122745600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:122742800-122743800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell

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