Variant report

Variant	rs4698138
Chromosome Location	chr4:16209716-16209717
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16207822..16210788-chr4:16227616..16230389,3	MCF-7	breast:
2	chr4:16207543..16210716-chr4:16226514..16229225,4	K562	blood:
3	chr4:16205687..16210095-chr4:16211514..16215415,4	K562	blood:
4	chr4:16207884..16210057-chr4:16223808..16226102,2	K562	blood:
5	chr4:16206563..16211517-chr4:16224602..16229225,6	K562	blood:
6	chr4:16208663..16211668-chr4:16215718..16220403,4	K562	blood:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction
ENSG00000263327	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10017532	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10516297	0.81[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap]
rs13120908	0.81[ASN][1000 genomes]
rs13132678	0.80[ASN][1000 genomes]
rs13136172	0.90[CHD][hapmap];0.83[JPT][hapmap]
rs2028631	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28654954	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs33980476	0.84[CEU][hapmap];0.82[CHD][hapmap];0.81[EUR][1000 genomes]
rs35475888	0.81[ASN][1000 genomes]
rs35517826	0.81[ASN][1000 genomes]
rs35806798	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35931597	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4235382	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4481232	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4571326	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4698457	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6810390	0.81[ASN][1000 genomes]
rs6852432	0.81[ASN][1000 genomes]
rs9995025	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS 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	22 gene(s)	inside rSNPs	diseases
4	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16168000-16213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:16181200-16223800	Weak transcription	Fetal Brain Male	brain
3	chr4:16193000-16216000	Weak transcription	Spleen	Spleen
4	chr4:16193000-16225800	Weak transcription	Colonic Mucosa	Colon
5	chr4:16193200-16225800	Weak transcription	Fetal Brain Female	brain
6	chr4:16193400-16211200	Weak transcription	Placenta	Placenta
7	chr4:16198600-16211200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:16198600-16216400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:16198600-16221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:16198600-16222400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:16198800-16211400	Weak transcription	Aorta	Aorta
12	chr4:16198800-16218800	Weak transcription	HSMM	muscle
13	chr4:16198800-16225600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:16198800-16226000	Weak transcription	NHEK	skin
15	chr4:16198800-16226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:16199800-16209800	Weak transcription	NHLF	lung
17	chr4:16199800-16215800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:16200000-16214200	Weak transcription	Fetal Heart	heart
19	chr4:16200800-16213600	Weak transcription	HUVEC	blood vessel
20	chr4:16200800-16214800	Weak transcription	Stomach Mucosa	stomach
21	chr4:16200800-16218000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:16202800-16220800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:16203800-16211200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:16204200-16213800	Weak transcription	Ovary	ovary
25	chr4:16204400-16209800	Enhancers	Brain Substantia Nigra	brain
26	chr4:16204600-16210400	Enhancers	Brain Angular Gyrus	brain
27	chr4:16204800-16210800	Enhancers	Brain Hippocampus Middle	brain
28	chr4:16204800-16226600	Weak transcription	NH-A	brain
29	chr4:16205200-16225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:16205800-16211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:16206000-16211200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:16206000-16211600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:16206400-16210000	Weak transcription	Fetal Intestine Large	intestine
34	chr4:16206400-16216000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:16206400-16218400	Weak transcription	Fetal Lung	lung
36	chr4:16206600-16218400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:16207200-16210200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr4:16207400-16210600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:16207400-16216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr4:16207400-16223600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:16207600-16210400	Enhancers	Brain Germinal Matrix	brain
42	chr4:16208000-16210400	Genic enhancers	Monocytes-CD14+_RO01746	blood
43	chr4:16208000-16210600	Weak transcription	HepG2	liver
44	chr4:16208200-16210400	Weak transcription	Thymus	Thymus
45	chr4:16208200-16211200	Weak transcription	K562	blood
46	chr4:16208200-16211400	Weak transcription	A549	lung
47	chr4:16208400-16210800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:16208400-16214400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:16208400-16214800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr4:16208400-16219000	Weak transcription	Duodenum Mucosa	Duodenum

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