Variant report

Variant	rs769240
Chromosome Location	chr4:122744067-122744068
allele	G/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr4:122743937..122745709-chr4:122789073..122792833,3	MCF-7	breast:
6	chr4:122719927..122724442-chr4:122741540..122746604,11	MCF-7	breast:
7	chr4:122722789..122724421-chr4:122743647..122745561,2	MCF-7	breast:
8	chr4:122743419..122745075-chr4:122767159..122769948,2	MCF-7	breast:
9	chr4:122743548..122747768-chr4:122748127..122751699,7	K562	blood:

No data

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11933339	0.83[AMR][1000 genomes]
rs11934168	0.83[AMR][1000 genomes]
rs12644087	0.85[CHD][hapmap]
rs1507987	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1507988	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17005269	0.83[AMR][1000 genomes]
rs17005276	0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs2661556	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2706794	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2706797	0.85[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706801	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3217770	0.83[AMR][1000 genomes]
rs34669312	0.83[AMR][1000 genomes]
rs3749475	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs3762839	0.88[CHB][hapmap];0.82[CHD][hapmap]
rs3811743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4001033	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4132552	0.83[AMR][1000 genomes]
rs61639241	0.83[AMR][1000 genomes]
rs72915930	0.83[AMR][1000 genomes]
rs72915936	0.83[AMR][1000 genomes]
rs72915942	0.83[AMR][1000 genomes]
rs72915943	0.83[AMR][1000 genomes]
rs72915957	0.83[AMR][1000 genomes]
rs72915958	0.83[AMR][1000 genomes]
rs72917987	0.83[AMR][1000 genomes]
rs72917996	0.83[AMR][1000 genomes]
rs72918000	0.83[AMR][1000 genomes]
rs72919903	0.83[AMR][1000 genomes]
rs72919909	0.83[AMR][1000 genomes]
rs769235	0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][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	chr4:122723400-122744200	Weak transcription	Stomach Mucosa	stomach
4	chr4:122730600-122744200	Weak transcription	Lung	lung
5	chr4:122733200-122744200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:122735200-122744400	Weak transcription	Psoas Muscle	Psoas
7	chr4:122735200-122744400	Weak transcription	Right Ventricle	heart
8	chr4:122739600-122744200	Weak transcription	Brain Angular Gyrus	brain
9	chr4:122739600-122744200	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:122739800-122744200	Weak transcription	Fetal Brain Male	brain
11	chr4:122739800-122744200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:122739800-122744200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:122740000-122744200	Weak transcription	Ovary	ovary
14	chr4:122740200-122744400	Weak transcription	Left Ventricle	heart
15	chr4:122740400-122744400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:122740600-122744200	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:122741400-122744800	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr4:122742000-122744400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:122742400-122744200	Transcr. at gene 5' and 3'	K562	blood
20	chr4:122742600-122745400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:122742600-122745600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:122742800-122744200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr4:122742800-122744600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:122742800-122745600	Active TSS	Thymus	Thymus
25	chr4:122742800-122745600	Active TSS	NHLF	lung
26	chr4:122743000-122744600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:122743200-122744200	Flanking Active TSS	HUVEC	blood vessel
28	chr4:122743400-122744200	Flanking Active TSS	NHEK	skin
29	chr4:122743400-122744800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:122743400-122745600	Active TSS	H1 Cell Line	embryonic stem cell
31	chr4:122743400-122745600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:122743400-122745600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:122743400-122745600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:122743400-122745600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:122743400-122745800	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr4:122743600-122744200	Active TSS	Esophagus	oesophagus
37	chr4:122743600-122744200	Flanking Active TSS	Fetal Lung	lung
38	chr4:122743600-122744200	Active TSS	Fetal Muscle Trunk	muscle
39	chr4:122743600-122744200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr4:122743600-122744200	Enhancers	Small Intestine	intestine
41	chr4:122743600-122744600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr4:122743600-122744600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr4:122743600-122744600	Flanking Active TSS	Fetal Stomach	stomach
44	chr4:122743600-122744800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr4:122743600-122744800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr4:122743600-122745000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr4:122743600-122745400	Active TSS	HSMM	muscle
48	chr4:122743600-122745600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:122743600-122745600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:122743600-122745600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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