Variant report

Variant	rs7673853
Chromosome Location	chr4:55096606-55096607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55094459..55096231-chr4:55096303..55097882,2	K562	blood:

Variant related genes	Relation type
ENSG00000134853	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11133313	0.87[AFR][1000 genomes]
rs11133315	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12501810	0.82[AFR][1000 genomes]
rs12648347	0.86[AFR][1000 genomes]
rs17084051	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1800809	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1800810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1800812	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1800813	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28436914	0.83[AFR][1000 genomes]
rs4368668	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4422471	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4608869	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4635872	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4864857	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4864858	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4864859	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4864860	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4864861	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4864862	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4864863	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58435984	0.83[ASN][1000 genomes]
rs60806423	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60863210	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61320297	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6554158	0.81[AMR][1000 genomes]
rs6554159	0.85[AFR][1000 genomes]
rs6554160	0.89[AMR][1000 genomes]
rs6554161	0.85[AFR][1000 genomes]
rs67432867	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6831380	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6832597	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6836215	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6846502	0.81[AMR][1000 genomes]
rs6850748	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73252942	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73252946	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7673027	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7673597	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7673625	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7673984	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7676972	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7677751	0.93[ASN][1000 genomes]
rs7678144	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7679903	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7681399	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7682912	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7689569	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7690503	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7698425	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs890203	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs890205	0.81[AMR][1000 genomes]
rs9991165	0.88[AMR][1000 genomes];0.84[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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002905	chr4:55093677-55115698	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55091200-55099000	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr4:55092000-55096800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr4:55092000-55100800	Active TSS	Aorta	Aorta
4	chr4:55092400-55097800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr4:55092400-55100600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:55093200-55100800	Active TSS	NHDF-Ad	bronchial
7	chr4:55093200-55102000	Active TSS	Ovary	ovary
8	chr4:55093800-55097000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr4:55093800-55097800	Bivalent/Poised TSS	Fetal Lung	lung
10	chr4:55094200-55099000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr4:55094200-55100800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:55094400-55097000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:55094400-55098000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
14	chr4:55094400-55098600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:55094600-55096800	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr4:55094600-55097000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
17	chr4:55094600-55097200	Active TSS	Right Atrium	heart
18	chr4:55094600-55097800	Bivalent Enhancer	HUVEC	blood vessel
19	chr4:55094600-55098000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
20	chr4:55094600-55098200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
21	chr4:55094800-55096800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
22	chr4:55094800-55100800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:55095000-55096800	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr4:55095000-55097000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr4:55095000-55097800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr4:55095000-55100400	Active TSS	Osteobl	bone
27	chr4:55095000-55100600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:55095000-55100800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr4:55095200-55098800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:55095400-55096800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
31	chr4:55095400-55097000	Bivalent/Poised TSS	Left Ventricle	heart
32	chr4:55095600-55099400	Bivalent/Poised TSS	Psoas Muscle	Psoas
33	chr4:55095600-55100600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr4:55095800-55098600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
35	chr4:55095800-55098600	Bivalent/Poised TSS	Small Intestine	intestine
36	chr4:55096000-55097200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr4:55096000-55097200	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr4:55096000-55097400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:55096000-55100000	Bivalent/Poised TSS	Thymus	Thymus
40	chr4:55096000-55100600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr4:55096000-55100800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr4:55096200-55096800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:55096200-55096800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
44	chr4:55096200-55096800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:55096200-55096800	Bivalent Enhancer	Liver	Liver
46	chr4:55096200-55096800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
47	chr4:55096200-55097400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:55096200-55097600	Bivalent/Poised TSS	Esophagus	oesophagus
49	chr4:55096200-55098200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr4:55096200-55098600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle

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