Variant report

Variant	rs73688721
Chromosome Location	chr7:31060349-31060350
allele	C/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:29)

rs_ID	r²[population]
rs10268647	1.00[EUR][1000 genomes]
rs10268908	1.00[EUR][1000 genomes]
rs10487706	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1894845	1.00[EUR][1000 genomes]
rs1894846	1.00[EUR][1000 genomes]
rs2066900	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28371566	1.00[EUR][1000 genomes]
rs34449837	1.00[EUR][1000 genomes]
rs35997819	1.00[EUR][1000 genomes]
rs3735429	1.00[EUR][1000 genomes]
rs55760747	1.00[EUR][1000 genomes]
rs58480989	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58489789	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59417539	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59513586	1.00[EUR][1000 genomes]
rs60304079	1.00[EUR][1000 genomes]
rs61510270	1.00[EUR][1000 genomes]
rs6942498	1.00[EUR][1000 genomes]
rs6943292	1.00[EUR][1000 genomes]
rs6973634	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6980078	1.00[EUR][1000 genomes]
rs73307733	1.00[EUR][1000 genomes]
rs73307736	1.00[EUR][1000 genomes]
rs73309711	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309720	1.00[AMR][1000 genomes]
rs73309771	1.00[EUR][1000 genomes]
rs7804958	1.00[EUR][1000 genomes]
rs7805043	1.00[EUR][1000 genomes]
rs7805487	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538811	chr7:30549595-31405593	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1016256	chr7:30649212-31163056	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1023120	chr7:30655070-31185096	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2761316	chr7:30655082-31166676	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv527038	chr7:30657467-31161945	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv916877	chr7:30661135-31154731	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1017168	chr7:30663213-31166676	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1017808	chr7:30671936-31150473	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:31056200-31061000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:31056600-31060400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr7:31057000-31063000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:31057000-31066800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:31057400-31063200	Weak transcription	Fetal Thymus	thymus
6	chr7:31057400-31066000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:31057400-31066400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:31058200-31060400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:31058600-31060600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:31058600-31061000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr7:31059400-31061000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:31059400-31063000	Weak transcription	Primary T cells from cord blood	blood
13	chr7:31059400-31066800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:31059600-31060600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:31059600-31061000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:31059600-31061000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:31059600-31061200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:31059800-31061000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:31059800-31061000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:31060000-31060400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:31060000-31060400	Enhancers	Fetal Brain Female	brain
22	chr7:31060000-31060600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:31060000-31060600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr7:31060000-31061000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:31060000-31061000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr7:31060000-31061000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:31060000-31061000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:31060000-31061000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:31060000-31061000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:31060000-31062800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:31060200-31060800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:31060200-31061000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:31060200-31066400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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