Variant report

Variant	rs4722678
Chromosome Location	chr7:27291920-27291921
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10255839	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10262140	1.00[GIH][hapmap]
rs10264581	1.00[GIH][hapmap]
rs10807840	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1859666	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3735533	0.87[GIH][hapmap]
rs6461997	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6461998	0.88[GIH][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6956598	0.83[CHD][hapmap]
rs6973893	0.84[AMR][1000 genomes]
rs6973955	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs757179	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7782941	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7786992	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs7794193	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7808176	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7808467	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
4	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
5	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887869	chr7:27135314-27297791	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
8	nsv1020608	chr7:27139892-27324004	Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv538807	chr7:27139892-27324004	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
10	nsv532118	chr7:27146920-27354205	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
11	nsv887879	chr7:27175295-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
12	esv1798853	chr7:27181568-27309266	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	150 gene(s)	inside rSNPs	diseases
13	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv887880	chr7:27205282-27294701	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
15	nsv887881	chr7:27205282-27297791	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
16	nsv887884	chr7:27206688-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
17	nsv887886	chr7:27215041-27297791	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
18	nsv887889	chr7:27220831-27297791	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
19	nsv887892	chr7:27223563-27297791	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
20	nsv519583	chr7:27243962-27298264	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27283600-27293600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:27288400-27292200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr7:27289000-27292000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:27290400-27292000	Bivalent Enhancer	Fetal Stomach	stomach
5	chr7:27290600-27292400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr7:27290800-27292000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr7:27290800-27292000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr7:27290800-27292200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr7:27290800-27292200	Bivalent Enhancer	Fetal Lung	lung
10	chr7:27290800-27292800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr7:27291000-27292000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:27291000-27292000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr7:27291000-27292000	Bivalent Enhancer	Liver	Liver
14	chr7:27291000-27292000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
15	chr7:27291000-27292000	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr7:27291000-27292000	Flanking Active TSS	Right Ventricle	heart
17	chr7:27291000-27292000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
18	chr7:27291000-27292000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
19	chr7:27291000-27292200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:27291000-27292200	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr7:27291000-27292200	Bivalent Enhancer	Spleen	Spleen
22	chr7:27291000-27292600	Bivalent Enhancer	Fetal Brain Male	brain
23	chr7:27291200-27292000	Bivalent Enhancer	Lung	lung
24	chr7:27291200-27292200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:27291200-27292200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:27291200-27292200	Bivalent Enhancer	Esophagus	oesophagus
27	chr7:27291200-27292200	Bivalent Enhancer	Fetal Heart	heart
28	chr7:27291200-27292200	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr7:27291200-27292200	Enhancers	Gastric	stomach
30	chr7:27291200-27292200	Enhancers	Pancreas	Pancrea
31	chr7:27291200-27292200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
32	chr7:27291400-27292000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr7:27291400-27292000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
34	chr7:27291400-27292200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr7:27291400-27292200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr7:27291400-27292200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
37	chr7:27291400-27292400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:27291400-27292600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:27291600-27292000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:27291600-27292000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:27291600-27292000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:27291600-27292000	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr7:27291600-27292000	Bivalent Enhancer	Ovary	ovary
44	chr7:27291600-27292000	Bivalent Enhancer	NHEK	skin
45	chr7:27291600-27292200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr7:27291600-27292200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:27291600-27292200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:27291600-27292200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr7:27291600-27292400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:27291600-27292600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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