Variant report

Variant	rs62328061
Chromosome Location	chr4:119610606-119610607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119610419..119612181-chr4:119612941..119614649,2	K562	blood:
2	chr4:119608875..119611520-chr4:119620589..119622906,3	K562	blood:
3	chr4:119603589..119605828-chr4:119610331..119611922,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145388	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1489541	0.96[ASN][1000 genomes]
rs441216	0.81[ASN][1000 genomes]
rs59721606	0.91[ASN][1000 genomes]
rs62328062	1.00[ASN][1000 genomes]
rs62328102	0.99[ASN][1000 genomes]
rs62328103	0.99[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607000-119644800	Weak transcription	Small Intestine	intestine
2	chr4:119607200-119610800	Weak transcription	Pancreas	Pancrea
3	chr4:119607200-119615800	Weak transcription	Esophagus	oesophagus
4	chr4:119607200-119659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:119607400-119613200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:119607600-119613000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:119607600-119615800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:119607800-119610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:119607800-119613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:119607800-119615800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:119607800-119615800	Weak transcription	Psoas Muscle	Psoas
12	chr4:119607800-119618000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:119607800-119625600	Weak transcription	Aorta	Aorta
14	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:119608000-119618800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:119608000-119645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:119608400-119611400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:119608400-119612000	Weak transcription	HSMM	muscle
19	chr4:119608400-119612600	Weak transcription	NHDF-Ad	bronchial
20	chr4:119608400-119613200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:119608400-119613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:119608400-119613600	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:119608400-119613800	Weak transcription	Brain Germinal Matrix	brain
24	chr4:119608400-119615600	Weak transcription	A549	lung
25	chr4:119608400-119615800	Weak transcription	NHLF	lung
26	chr4:119608400-119618600	Weak transcription	Brain Substantia Nigra	brain
27	chr4:119608600-119612600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:119608600-119612800	Weak transcription	K562	blood
29	chr4:119608600-119618400	Weak transcription	Colonic Mucosa	Colon
30	chr4:119608600-119635200	Strong transcription	Fetal Thymus	thymus
31	chr4:119608600-119635800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
33	chr4:119608800-119610800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:119608800-119610800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:119608800-119611600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:119608800-119613000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:119608800-119613200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:119608800-119613200	Weak transcription	GM12878-XiMat	blood
39	chr4:119608800-119613600	Weak transcription	Brain Angular Gyrus	brain
40	chr4:119608800-119613800	Weak transcription	HMEC	breast
41	chr4:119608800-119618000	Weak transcription	Hela-S3	cervix
42	chr4:119608800-119625400	Weak transcription	HSMMtube	muscle
43	chr4:119608800-119635000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:119609000-119611600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr4:119609000-119611800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:119609000-119611800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:119609000-119611800	Strong transcription	Fetal Muscle Leg	muscle
48	chr4:119609000-119612000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:119609000-119612000	Strong transcription	Fetal Stomach	stomach
50	chr4:119609000-119614600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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