Variant report

Variant	rs4699194
Chromosome Location	chr4:106602182-106602183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:106601053-106603265	K562	blood:	n/a	n/a
2	POLR2A	chr4:106602175-106602316	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106600442..106602529-chr4:106626797..106629772,2	K562	blood:

Variant related genes	Relation type
ENSG00000248778	TF binding region
ENSG00000138785	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10019217	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10030620	0.80[ASN][1000 genomes]
rs10049527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10516522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11930244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11930965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11936611	0.82[ASN][1000 genomes]
rs11942577	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12504088	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12511885	0.95[ASN][1000 genomes]
rs12512339	0.90[ASN][1000 genomes]
rs13110070	0.85[ASN][1000 genomes]
rs13145251	0.83[ASN][1000 genomes]
rs17036093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17036097	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17036102	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17036158	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2193852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2193853	0.92[ASN][1000 genomes]
rs2193854	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28370551	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28391170	1.00[ASN][1000 genomes]
rs28450989	1.00[ASN][1000 genomes]
rs28559909	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28698939	0.85[ASN][1000 genomes]
rs3796926	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235415	0.87[ASN][1000 genomes]
rs4490460	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698950	0.93[ASN][1000 genomes]
rs4698951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4699192	0.85[ASN][1000 genomes]
rs4699193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699195	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699198	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4699199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58388061	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58914657	0.83[ASN][1000 genomes]
rs59961848	0.84[ASN][1000 genomes]
rs60774107	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60861135	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6817029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6820671	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6825379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs6826631	0.82[ASN][1000 genomes]
rs6843771	0.82[ASN][1000 genomes]
rs7658055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7659526	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7665588	0.92[ASN][1000 genomes]
rs7696836	0.85[ASN][1000 genomes]
rs7697619	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106559400-106602800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:106578600-106607000	Weak transcription	Small Intestine	intestine
3	chr4:106580400-106603400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:106580400-106613200	Weak transcription	Fetal Intestine Small	intestine
5	chr4:106587800-106629000	Weak transcription	Lung	lung
6	chr4:106593000-106603800	Weak transcription	Aorta	Aorta
7	chr4:106594000-106603400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:106595400-106603000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:106597000-106610000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:106597200-106603400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:106597400-106602800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:106598600-106613000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:106599000-106603600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:106599000-106614400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:106599200-106603200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:106599200-106613800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:106599400-106603200	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:106599600-106603000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:106599600-106603200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:106599800-106602600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:106599800-106603600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:106600200-106602200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:106600400-106602600	Weak transcription	Fetal Thymus	thymus
24	chr4:106600400-106628600	Weak transcription	Colonic Mucosa	Colon
25	chr4:106600600-106602600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:106600600-106602600	Weak transcription	Adipose Nuclei	Adipose
27	chr4:106600600-106603000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:106600600-106603400	Weak transcription	NHDF-Ad	bronchial
29	chr4:106600600-106603600	Weak transcription	NH-A	brain
30	chr4:106600600-106603800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:106600600-106603800	Weak transcription	Ovary	ovary
32	chr4:106600600-106628400	Weak transcription	Stomach Mucosa	stomach
33	chr4:106600800-106602400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:106600800-106602600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:106600800-106602600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:106600800-106602600	Weak transcription	Fetal Intestine Large	intestine
37	chr4:106600800-106603400	Weak transcription	HSMMtube	muscle
38	chr4:106600800-106603600	Weak transcription	HUVEC	blood vessel
39	chr4:106600800-106603800	Weak transcription	Fetal Kidney	kidney
40	chr4:106600800-106603800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:106601000-106602600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:106601000-106602600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:106601000-106602600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr4:106601000-106602800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:106601000-106602800	Weak transcription	Liver	Liver
46	chr4:106601000-106602800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:106601000-106603000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:106601000-106603000	Weak transcription	Dnd41	blood
49	chr4:106601000-106603200	Weak transcription	Left Ventricle	heart
50	chr4:106601000-106603800	Weak transcription	Muscle Satellite Cultured Cells	--

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