Variant report

Variant	rs7698393
Chromosome Location	chr4:76664892-76664893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10009902	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10014281	0.86[EUR][1000 genomes]
rs10028884	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10029110	0.90[EUR][1000 genomes]
rs11729258	0.85[EUR][1000 genomes]
rs226416	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2280095	0.86[EUR][1000 genomes]
rs2869174	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs324682	0.82[EUR][1000 genomes]
rs324683	0.83[EUR][1000 genomes]
rs324685	0.87[EUR][1000 genomes]
rs324689	0.89[EUR][1000 genomes]
rs324692	0.89[EUR][1000 genomes]
rs324695	0.89[EUR][1000 genomes]
rs324707	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324708	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324711	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324715	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324716	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324717	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324718	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324721	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324724	0.89[EUR][1000 genomes]
rs324725	0.89[EUR][1000 genomes]
rs324737	0.89[EUR][1000 genomes]
rs3853184	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3942252	0.86[EUR][1000 genomes]
rs436611	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs443952	0.89[EUR][1000 genomes]
rs4859550	0.86[EUR][1000 genomes]
rs5020591	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6419115	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6531889	0.86[EUR][1000 genomes]
rs6531902	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6531903	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6826858	0.81[EUR][1000 genomes]
rs6835819	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6842216	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6855321	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72651313	0.82[EUR][1000 genomes]
rs7356270	0.86[EUR][1000 genomes]
rs7356310	0.86[EUR][1000 genomes]
rs7657871	0.86[EUR][1000 genomes]
rs7662940	0.86[EUR][1000 genomes]
rs7674063	0.81[EUR][1000 genomes]
rs7677150	0.86[EUR][1000 genomes]
rs7691385	0.86[EUR][1000 genomes]
rs7696241	0.86[EUR][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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76673400	Weak transcription	Lung	lung
2	chr4:76650800-76675600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:76650800-76675800	Weak transcription	Esophagus	oesophagus
4	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:76651400-76667000	Weak transcription	Gastric	stomach
6	chr4:76651800-76667000	Weak transcription	Primary B cells from cord blood	blood
7	chr4:76652000-76673400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:76652000-76675200	Weak transcription	Fetal Thymus	thymus
9	chr4:76652000-76675400	Weak transcription	Placenta	Placenta
10	chr4:76652000-76675600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:76652000-76675600	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:76652000-76675600	Weak transcription	Spleen	Spleen
13	chr4:76652000-76696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:76652200-76670800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:76652200-76675600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:76652400-76665600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:76652400-76675200	Weak transcription	Fetal Kidney	kidney
18	chr4:76652400-76675600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:76652400-76675800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:76652400-76675800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
22	chr4:76652600-76670000	Weak transcription	K562	blood
23	chr4:76652600-76675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:76652600-76675600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:76652800-76670000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr4:76652800-76675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:76652800-76675600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:76652800-76675600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr4:76653000-76669400	Weak transcription	HUVEC	blood vessel
30	chr4:76653200-76665600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:76653200-76665600	Weak transcription	A549	lung
32	chr4:76653200-76670000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:76653200-76670600	Weak transcription	Primary T cells from cord blood	blood
34	chr4:76653200-76675200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:76653200-76675200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:76653200-76675400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:76653200-76675600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:76653200-76675600	Weak transcription	Dnd41	blood
39	chr4:76653400-76666200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:76653600-76670000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:76653800-76669800	Weak transcription	NHEK	skin
42	chr4:76653800-76670000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:76653800-76675400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:76654800-76674600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:76654800-76675200	Weak transcription	Pancreas	Pancrea
46	chr4:76654800-76675400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:76654800-76675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:76655000-76670000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:76655000-76675000	Weak transcription	Small Intestine	intestine
50	chr4:76655200-76675600	Weak transcription	Stomach Smooth Muscle	stomach

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