Variant report

Variant	rs66490968
Chromosome Location	chr4:158915922-158915923
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:158914380..158920879-chr4:159079921..159084466,8	MCF-7	breast:
2	chr4:158912571..158916849-chr4:159013907..159018478,8	MCF-7	breast:
3	chr4:158914972..158917368-chr4:158985626..158987594,2	MCF-7	breast:
4	chr4:158912006..158922011-chr4:159085009..159099282,46	MCF-7	breast:
5	chr4:158908850..158922778-chr4:159084957..159098830,43	MCF-7	breast:
6	chr4:158913650..158917854-chr4:159079985..159084707,6	MCF-7	breast:
7	chr4:158915917..158916822-chr4:159091876..159092626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248429	Chromatin interaction
ENSG00000164125	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10005901	0.87[AMR][1000 genomes]
rs10027000	0.85[AMR][1000 genomes]
rs10049927	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13137826	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28635553	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4072170	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4077776	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4487405	0.89[AMR][1000 genomes]
rs4504305	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4521391	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4574459	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4615226	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4631100	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4691447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6847800	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6848159	0.84[AMR][1000 genomes]
rs7657303	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7673290	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7682867	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9991381	0.89[AMR][1000 genomes];0.82[EUR][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	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv881288	chr4:158891733-159028080	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158913600-158916600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:158913600-158917800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:158913800-158916000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:158913800-158916000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:158913800-158916000	Weak transcription	Brain Angular Gyrus	brain
6	chr4:158913800-158916000	Weak transcription	Brain Anterior Caudate	brain
7	chr4:158913800-158916000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:158913800-158916000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:158913800-158916000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:158913800-158916000	Weak transcription	NHDF-Ad	bronchial
11	chr4:158913800-158916200	Weak transcription	NHLF	lung
12	chr4:158913800-158917200	Weak transcription	Fetal Stomach	stomach
13	chr4:158913800-158917400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:158913800-158917400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:158913800-158917400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:158913800-158917400	Weak transcription	NH-A	brain
17	chr4:158913800-158918800	Enhancers	Fetal Intestine Small	intestine
18	chr4:158913800-158928200	Weak transcription	HSMM	muscle
19	chr4:158913800-158930000	Weak transcription	Right Atrium	heart
20	chr4:158914000-158916000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:158914400-158916000	Weak transcription	Adipose Nuclei	Adipose
22	chr4:158914400-158916000	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:158914400-158916200	Weak transcription	Liver	Liver
24	chr4:158914400-158916400	Enhancers	Fetal Intestine Large	intestine
25	chr4:158914400-158917400	Weak transcription	Fetal Kidney	kidney
26	chr4:158914400-158923400	Weak transcription	Fetal Heart	heart
27	chr4:158914600-158917200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:158914800-158916000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:158914800-158916400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr4:158915000-158916000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:158915000-158917200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:158915000-158924000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr4:158915200-158916000	Enhancers	HepG2	liver
34	chr4:158915200-158916600	Enhancers	Ovary	ovary
35	chr4:158915600-158917400	Weak transcription	Pancreas	Pancrea
36	chr4:158915800-158916000	Enhancers	Brain Substantia Nigra	brain
37	chr4:158915800-158916000	Enhancers	HUVEC	blood vessel
38	chr4:158915800-158916200	Active TSS	A549	lung
39	chr4:158915800-158916400	Enhancers	Fetal Lung	lung
40	chr4:158915800-158916800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:158915800-158918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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