Variant report

Variant	rs62335861
Chromosome Location	chr4:159084533-159084534
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:158918095..158920642-chr4:159082633..159084601,2	MCF-7	breast:
2	chr4:159011423..159013282-chr4:159081920..159084638,2	MCF-7	breast:
3	chr4:159083843..159086594-chr4:159090797..159093216,2	K562	blood:
4	chr4:159013562..159016824-chr4:159081048..159085392,5	MCF-7	breast:
5	chr4:159083602..159085343-chr4:159091716..159093896,2	K562	blood:

Variant related genes	Relation type
ENSG00000164125	Chromatin interaction
ENSG00000248429	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10517688	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17037003	0.82[AMR][1000 genomes]
rs17037241	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2245735	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4398571	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62335862	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62335889	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62337014	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62337015	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7384	0.82[AMR][1000 genomes];0.81[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	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159076600-159085200	Enhancers	Colon Smooth Muscle	Colon
2	chr4:159076800-159089800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:159078400-159089000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:159078600-159094000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:159080600-159085200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:159080600-159086000	Weak transcription	Fetal Intestine Large	intestine
7	chr4:159080800-159085800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:159080800-159085800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:159081400-159085000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:159081600-159085400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:159082000-159085400	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:159083000-159086000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:159083000-159086000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:159083000-159086800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:159083000-159091800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:159083200-159085800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:159083200-159085800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:159083200-159085800	Weak transcription	Psoas Muscle	Psoas
19	chr4:159083200-159087200	Weak transcription	Fetal Intestine Small	intestine
20	chr4:159083200-159089800	Weak transcription	Fetal Kidney	kidney
21	chr4:159083400-159085000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:159083400-159085000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:159083400-159085200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:159083400-159085800	Weak transcription	Brain Angular Gyrus	brain
25	chr4:159083400-159089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:159083400-159090400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:159083600-159085000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:159083600-159085200	Enhancers	Right Atrium	heart
29	chr4:159083600-159085600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:159083600-159086000	Weak transcription	NHDF-Ad	bronchial
31	chr4:159083600-159086200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:159083600-159087000	Genic enhancers	Primary monocytes fromperipheralblood	blood
33	chr4:159083800-159084600	Genic enhancers	HUVEC	blood vessel
34	chr4:159083800-159085000	Weak transcription	Fetal Stomach	stomach
35	chr4:159083800-159085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:159083800-159085800	Enhancers	Fetal Heart	heart
37	chr4:159083800-159085800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:159083800-159086200	Genic enhancers	Monocytes-CD14+_RO01746	blood
39	chr4:159084000-159085200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:159084000-159085200	Weak transcription	Brain Anterior Caudate	brain
41	chr4:159084000-159085200	Weak transcription	Brain Substantia Nigra	brain
42	chr4:159084000-159085800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:159084000-159085800	Weak transcription	NH-A	brain
44	chr4:159084000-159086000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:159084000-159086000	Strong transcription	HSMM	muscle
46	chr4:159084000-159086600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:159084000-159089800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:159084200-159084600	Weak transcription	Adipose Nuclei	Adipose
49	chr4:159084200-159084800	Weak transcription	Ovary	ovary
50	chr4:159084200-159085000	Weak transcription	Aorta	Aorta

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