Variant report

Variant	rs712708
Chromosome Location	chr7:127322685-127322686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127321060-127323246	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127322349..127324124-chr7:127326869..127328716,2	MCF-7	breast:
2	chr7:127321239..127323993-chr7:127348040..127350478,2	K562	blood:
3	chr7:127322078..127323617-chr7:127325626..127327156,2	K562	blood:

Variant related genes	Relation type
SND1	TF binding region
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1019578	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10228031	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10229187	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1025075	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1440973	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17133046	0.81[AFR][1000 genomes]
rs1966517	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2582716	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs325438	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs325439	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs325443	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs325448	0.84[AFR][1000 genomes]
rs325449	0.84[AFR][1000 genomes]
rs327509	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[AMR][1000 genomes]
rs327514	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs327515	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs327517	1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[AMR][1000 genomes]
rs327519	0.89[AMR][1000 genomes]
rs327522	0.89[AMR][1000 genomes]
rs452896	0.89[AMR][1000 genomes]
rs4728078	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4731379	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4731382	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4731383	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4731384	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs537972	1.00[AMR][1000 genomes]
rs6467142	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6467146	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6467147	0.83[AMR][1000 genomes]
rs6467149	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6467150	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6467151	0.83[AMR][1000 genomes]
rs6950211	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6979918	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs698407	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs698409	1.00[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs712706	0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs712709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs712710	1.00[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs712711	0.84[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs712713	0.84[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MKK][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs712714	1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs712717	1.00[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs712720	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs73720863	0.89[AMR][1000 genomes]
rs7809182	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs806126	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs806161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs806163	1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs806164	0.84[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs806165	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs806167	1.00[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs806168	1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs806170	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs806171	0.86[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.86[MKK][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs806173	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs806182	0.84[ASN][1000 genomes]
rs809333	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv981781	chr7:127322449-127326404	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127293200-127326600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:127294800-127327400	Weak transcription	Fetal Kidney	kidney
3	chr7:127295400-127326400	Weak transcription	Thymus	Thymus
4	chr7:127296200-127326600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:127299000-127334400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:127304600-127326600	Weak transcription	Fetal Stomach	stomach
7	chr7:127305200-127326600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:127306600-127323600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:127307000-127324200	Weak transcription	Fetal Heart	heart
10	chr7:127307000-127324200	Weak transcription	Stomach Mucosa	stomach
11	chr7:127307000-127330200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:127307200-127323200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:127307800-127324400	Weak transcription	Small Intestine	intestine
14	chr7:127308000-127323600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:127308200-127326600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:127308400-127326600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:127308800-127323600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:127308800-127323600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:127308800-127333600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:127309400-127333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:127309600-127339600	Weak transcription	Brain Germinal Matrix	brain
22	chr7:127310600-127326400	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:127311200-127326600	Weak transcription	Hela-S3	cervix
24	chr7:127312000-127323200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:127314200-127323600	Weak transcription	Gastric	stomach
26	chr7:127314400-127323200	Weak transcription	Left Ventricle	heart
27	chr7:127314400-127323400	Weak transcription	Pancreas	Pancrea
28	chr7:127314400-127326000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:127314400-127326600	Weak transcription	Spleen	Spleen
30	chr7:127314400-127327600	Weak transcription	Brain Anterior Caudate	brain
31	chr7:127314400-127330400	Weak transcription	Esophagus	oesophagus
32	chr7:127316400-127323800	Weak transcription	Ovary	ovary
33	chr7:127316400-127326600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:127317000-127326600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:127318200-127325800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:127318200-127333800	Weak transcription	Brain Angular Gyrus	brain
37	chr7:127318600-127326200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:127318800-127323600	Weak transcription	Adipose Nuclei	Adipose
39	chr7:127318800-127323800	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:127319000-127323600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:127319200-127323200	Weak transcription	Psoas Muscle	Psoas
42	chr7:127319200-127323600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:127319200-127323600	Weak transcription	Fetal Lung	lung
44	chr7:127319200-127324000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:127319200-127326200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:127319200-127326200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:127319200-127326400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:127319200-127326600	Weak transcription	Lung	lung
49	chr7:127319200-127326600	Weak transcription	HSMM	muscle
50	chr7:127319200-127330400	Weak transcription	Aorta	Aorta

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