Variant report

Variant	rs17330921
Chromosome Location	chr7:4060431-4060432
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10228678	0.82[CHB][hapmap]
rs10231929	0.82[CHB][hapmap]
rs10237319	0.82[CHB][hapmap]
rs10239052	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs10241063	0.82[CHB][hapmap]
rs10480120	1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10485860	0.82[CHB][hapmap]
rs12155078	0.82[CHB][hapmap]
rs12155314	0.82[CHB][hapmap]
rs13226987	0.82[CHB][hapmap]
rs1562006	0.82[CHB][hapmap]
rs17265128	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2342497	0.82[CHB][hapmap]
rs2342498	0.82[CHB][hapmap]
rs4442012	0.82[CHB][hapmap]
rs56155108	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56249161	0.84[ASN][1000 genomes]
rs60163833	0.96[ASN][1000 genomes]
rs61752593	0.88[ASN][1000 genomes]
rs6462522	0.85[CHB][hapmap];0.90[CHD][hapmap]
rs6462524	0.85[CHB][hapmap]
rs6462534	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6462544	0.82[CHB][hapmap]
rs6462570	0.82[CHB][hapmap]
rs6950410	0.85[CHB][hapmap];0.90[CHD][hapmap]
rs6957994	0.82[CHB][hapmap]
rs6964566	0.85[CHB][hapmap]
rs6970334	0.82[CHB][hapmap]
rs6972327	0.82[CHB][hapmap]
rs6974248	0.82[CHB][hapmap]
rs7779616	0.82[CHB][hapmap]
rs7781059	0.82[CHB][hapmap]
rs7790918	0.82[CHB][hapmap]
rs7794939	0.82[CHB][hapmap]
rs7799331	0.82[CHB][hapmap]
rs7801843	0.82[CHB][hapmap]
rs7807487	0.84[ASN][1000 genomes]
rs894776	0.82[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs963255	0.82[CHB][hapmap]
rs9692219	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025497	chr7:3905444-4176032	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538686	chr7:3905444-4176032	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS 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	5 gene(s)	inside rSNPs	diseases
9	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1019305	chr7:3991646-4276004	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1033687	chr7:4006020-4267871	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv538688	chr7:4006020-4267871	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv917252	chr7:4017819-4374090	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv527624	chr7:4027536-4424054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv523815	chr7:4054773-4088876	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv887338	chr7:4054773-4105705	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4051200-4065600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:4052000-4061000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:4053800-4065800	Weak transcription	Fetal Brain Male	brain
4	chr7:4054200-4065400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:4058200-4061400	ZNF genes & repeats	Fetal Stomach	stomach
6	chr7:4058600-4060600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:4058800-4061000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:4059000-4067000	Weak transcription	Right Ventricle	heart
9	chr7:4059000-4091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:4059200-4061400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:4059200-4062000	Weak transcription	Fetal Brain Female	brain
12	chr7:4059400-4061000	Weak transcription	Fetal Lung	lung
13	chr7:4059600-4060600	Strong transcription	Pancreas	Pancrea
14	chr7:4059600-4060800	Strong transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:4059600-4060800	Weak transcription	Spleen	Spleen
16	chr7:4059600-4061200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:4059600-4061400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr7:4059800-4062000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:4059800-4065400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:4060000-4061000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:4060000-4061400	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:4060200-4065000	Weak transcription	Aorta	Aorta
23	chr7:4060400-4061000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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