Variant report

Variant	rs12705688
Chromosome Location	chr7:110028559-110028560
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10257901	0.82[ASN][1000 genomes]
rs10487322	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11982765	0.86[ASN][1000 genomes]
rs12705680	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12705681	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12705682	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12705683	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12705684	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12705685	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12705686	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12705687	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13239937	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13243231	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13247393	0.81[ASN][1000 genomes]
rs17432057	0.82[ASN][1000 genomes]
rs17432316	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17432399	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17432489	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2159699	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2159700	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34917604	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35134657	0.81[ASN][1000 genomes]
rs35620972	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4140831	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4140833	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55814644	0.82[ASN][1000 genomes]
rs56101192	0.82[ASN][1000 genomes]
rs59324488	0.82[ASN][1000 genomes]
rs6963665	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv532177	chr7:109319033-110123840	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1023428	chr7:109451842-110185072	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1018228	chr7:109612589-110105473	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv539058	chr7:109612589-110105473	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1016758	chr7:109834827-110549197	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv539059	chr7:109834827-110549197	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1028635	chr7:109896582-110417137	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv539060	chr7:109896582-110417137	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1024052	chr7:109935167-110126445	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1828513	chr7:109948107-110039995	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv427800	chr7:109949176-110257457	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1023596	chr7:109984459-110708071	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv539061	chr7:109984459-110708071	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110023600-110028800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:110026000-110029000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:110026000-110029000	Enhancers	HMEC	breast
4	chr7:110026000-110030000	Enhancers	NHEK	skin
5	chr7:110026200-110028600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:110026200-110029000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:110026800-110028600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:110027200-110028800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:110027200-110030000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:110027400-110030200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:110027600-110030200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:110027800-110029000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:110027800-110029800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:110028000-110029000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:110028000-110029400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:110028200-110028600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:110028200-110029200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:110028200-110029600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:110028400-110029400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:110028400-110030000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:110028400-110030400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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