Variant report

Variant	rs60327697
Chromosome Location	chr4:144383222-144383223
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	chr4:144375171..144376967-chr4:144383054..144385153,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28924082	1.00[ASN][1000 genomes]
rs28987969	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680485	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690186	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695623	1.00[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	esv2757960	chr4:144348293-145131592	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2759288	chr4:144348293-145131592	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1019980	chr4:144350575-144399936	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144327800-144388200	Weak transcription	HepG2	liver
2	chr4:144336400-144392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
4	chr4:144353200-144398600	Weak transcription	Brain Germinal Matrix	brain
5	chr4:144353600-144400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:144355600-144388200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:144358200-144387000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:144358400-144384400	Weak transcription	HSMM	muscle
9	chr4:144360000-144388400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:144360200-144383800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:144360200-144387200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:144360200-144399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:144361600-144390400	Weak transcription	K562	blood
14	chr4:144363200-144395400	Weak transcription	Spleen	Spleen
15	chr4:144363200-144398600	Weak transcription	Lung	lung
16	chr4:144365600-144398400	Weak transcription	NHLF	lung
17	chr4:144366200-144384400	Weak transcription	HUVEC	blood vessel
18	chr4:144366200-144394400	Weak transcription	Psoas Muscle	Psoas
19	chr4:144373200-144399000	Weak transcription	Fetal Brain Male	brain
20	chr4:144375000-144390400	Weak transcription	Stomach Mucosa	stomach
21	chr4:144376000-144383800	Weak transcription	Right Ventricle	heart
22	chr4:144376000-144391400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:144376000-144392800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:144376000-144398400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:144376400-144390200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:144376600-144392000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:144376800-144391200	Weak transcription	NH-A	brain
28	chr4:144376800-144410000	Weak transcription	Pancreas	Pancrea
29	chr4:144377000-144390400	Weak transcription	Fetal Heart	heart
30	chr4:144377200-144397400	Weak transcription	NHDF-Ad	bronchial
31	chr4:144377400-144388200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:144378400-144384600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:144378600-144393200	Weak transcription	Osteobl	bone
34	chr4:144378800-144390200	Weak transcription	HMEC	breast
35	chr4:144379000-144384400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:144379400-144399000	Weak transcription	HSMMtube	muscle
37	chr4:144379800-144384400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:144380000-144391800	Weak transcription	NHEK	skin
39	chr4:144380000-144392200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:144380200-144384400	Strong transcription	Liver	Liver
41	chr4:144380200-144385000	Strong transcription	Adipose Nuclei	Adipose
42	chr4:144380200-144385200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:144380200-144385400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr4:144380200-144392000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:144380200-144392000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr4:144380400-144384400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr4:144380400-144384600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:144380400-144384800	Strong transcription	Left Ventricle	heart
49	chr4:144380400-144385000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr4:144380400-144392400	Strong transcription	Fetal Intestine Large	intestine

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