Variant report

Variant	rs7692425
Chromosome Location	chr4:74058988-74058989
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74054562..74057067-chr4:74057401..74060235,2	K562	blood:
2	chr4:74049747..74053903-chr4:74055413..74060187,5	K562	blood:
3	chr4:74055545..74059425-chr4:74085647..74088678,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10028486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11933644	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[ASN][1000 genomes]
rs16849151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs16849172	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16849185	1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2306057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs28373296	0.91[ASN][1000 genomes]
rs28460851	0.91[ASN][1000 genomes]
rs28709646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs28776801	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[ASN][1000 genomes]
rs3796680	0.83[ASN][1000 genomes]
rs4631009	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4694589	0.83[ASN][1000 genomes]
rs61661011	0.87[ASN][1000 genomes]
rs6824334	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6845845	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs72663032	0.83[ASN][1000 genomes]
rs72861861	0.94[ASN][1000 genomes]
rs7661799	0.94[ASN][1000 genomes]
rs7679277	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[ASN][1000 genomes]
rs7694505	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv879486	chr4:74031423-74114322	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv1793600	chr4:74046221-74116012	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv879487	chr4:74050725-74090730	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	nsv879488	chr4:74050725-74099754	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	nsv879489	chr4:74050725-74115116	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	esv1792225	chr4:74052028-74076417	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
12	nsv980454	chr4:74052191-74064769	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
13	esv3410570	chr4:74055180-74122498	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74008800-74059600	Weak transcription	Fetal Brain Male	brain
2	chr4:74031600-74066800	Weak transcription	HMEC	breast
3	chr4:74031600-74077200	Weak transcription	Small Intestine	intestine
4	chr4:74036600-74088200	Weak transcription	Colonic Mucosa	Colon
5	chr4:74036800-74059400	Weak transcription	Spleen	Spleen
6	chr4:74036800-74062800	Weak transcription	Aorta	Aorta
7	chr4:74036800-74064800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:74037000-74064800	Weak transcription	Brain Anterior Caudate	brain
9	chr4:74037000-74072200	Weak transcription	Gastric	stomach
10	chr4:74037200-74064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:74039400-74062200	Weak transcription	HSMM	muscle
12	chr4:74039400-74064600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:74039400-74068800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:74039600-74062800	Weak transcription	Thymus	Thymus
15	chr4:74039600-74067600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:74039800-74066000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:74039800-74074600	Weak transcription	Left Ventricle	heart
18	chr4:74040200-74064800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:74040200-74065800	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:74041200-74059800	Weak transcription	NHLF	lung
21	chr4:74042400-74064600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:74043000-74063200	Weak transcription	Osteobl	bone
23	chr4:74043200-74067800	Weak transcription	Fetal Intestine Large	intestine
24	chr4:74043200-74088200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:74043400-74062800	Weak transcription	Fetal Thymus	thymus
26	chr4:74043400-74064400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:74043600-74059200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:74043800-74064400	Weak transcription	NHDF-Ad	bronchial
29	chr4:74044000-74072200	Weak transcription	Fetal Lung	lung
30	chr4:74044000-74078600	Weak transcription	Primary T cells from cord blood	blood
31	chr4:74044400-74059200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:74044400-74059200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:74044400-74065800	Weak transcription	Liver	Liver
34	chr4:74044400-74081400	Weak transcription	Dnd41	blood
35	chr4:74045000-74069000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:74046800-74087400	Weak transcription	Hela-S3	cervix
37	chr4:74047000-74063000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:74047000-74087400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:74047000-74087600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:74047200-74064200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:74048600-74062600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:74048600-74064400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:74049000-74063000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:74049000-74088200	Weak transcription	HepG2	liver
45	chr4:74050800-74067800	Weak transcription	Right Ventricle	heart
46	chr4:74053400-74059200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr4:74053400-74059800	Weak transcription	A549	lung
48	chr4:74053400-74062800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:74053400-74064600	Weak transcription	NH-A	brain
50	chr4:74053400-74065800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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