Variant report

Variant	rs7670068
Chromosome Location	chr4:53733984-53733985
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53586813..53589687-chr4:53732860..53735121,2	MCF-7	breast:
2	chr4:53587851..53589635-chr4:53733088..53734666,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248375	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10517269	0.85[AMR][1000 genomes]
rs11938159	0.83[AMR][1000 genomes]
rs11939448	0.81[AMR][1000 genomes]
rs17082074	0.82[ASN][1000 genomes]
rs17082091	0.81[AMR][1000 genomes]
rs2200225	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3811781	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41279517	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58577680	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59042894	0.81[AMR][1000 genomes]
rs6554054	0.83[AMR][1000 genomes]
rs6554057	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6817433	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6818178	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6833350	0.81[EUR][1000 genomes]
rs6838718	0.83[AMR][1000 genomes]
rs6848200	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6855240	0.81[EUR][1000 genomes]
rs73814868	0.85[AMR][1000 genomes]
rs73814875	0.92[ASN][1000 genomes]
rs73814883	0.97[ASN][1000 genomes]
rs73814886	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655781	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7663419	0.81[AMR][1000 genomes]
rs7677726	0.80[EUR][1000 genomes]
rs7685816	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7688141	0.83[AMR][1000 genomes]
rs7693568	0.81[AMR][1000 genomes]
rs7699960	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs881744	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1004086	chr4:53698581-53773183	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53728800-53738400	Weak transcription	Small Intestine	intestine
2	chr4:53729200-53734200	Weak transcription	Psoas Muscle	Psoas
3	chr4:53729200-53734400	Weak transcription	HSMMtube	muscle
4	chr4:53729200-53735200	Weak transcription	Colonic Mucosa	Colon
5	chr4:53729200-53751200	Weak transcription	GM12878-XiMat	blood
6	chr4:53729200-53807800	Weak transcription	Esophagus	oesophagus
7	chr4:53729400-53734000	Weak transcription	Brain Anterior Caudate	brain
8	chr4:53729400-53738600	Weak transcription	HMEC	breast
9	chr4:53729400-53739200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:53729400-53743200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:53729400-53752400	Weak transcription	Primary B cells from cord blood	blood
12	chr4:53729400-53753800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:53729600-53734000	Weak transcription	Brain Angular Gyrus	brain
14	chr4:53729600-53735200	Weak transcription	NHDF-Ad	bronchial
15	chr4:53729600-53739400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:53729600-53739600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:53729600-53742200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:53729800-53734400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:53729800-53737000	Weak transcription	Primary T cells from cord blood	blood
20	chr4:53729800-53739400	Weak transcription	Fetal Intestine Large	intestine
21	chr4:53730000-53743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:53730200-53734600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:53730200-53736600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:53731000-53735400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:53731200-53736000	Enhancers	Right Atrium	heart
26	chr4:53731400-53734200	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:53731400-53734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:53731400-53734400	Weak transcription	Brain Substantia Nigra	brain
29	chr4:53731400-53751000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:53731600-53734000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:53731600-53734400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
32	chr4:53731600-53736200	Weak transcription	Stomach Mucosa	stomach
33	chr4:53731600-53739400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:53731800-53734200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:53731800-53736600	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:53731800-53738000	Weak transcription	Liver	Liver
37	chr4:53732000-53734000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:53732000-53734000	Genic enhancers	Fetal Brain Male	brain
39	chr4:53732000-53734200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:53732000-53734400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:53732000-53734400	Strong transcription	Fetal Stomach	stomach
42	chr4:53732000-53734400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr4:53732200-53734000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:53732200-53734000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:53732200-53734200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr4:53732200-53734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:53732200-53734400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:53732200-53734400	Weak transcription	Gastric	stomach
49	chr4:53732200-53734400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:53732200-53735200	Weak transcription	Spleen	Spleen

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