Variant report

Variant	rs1008584
Chromosome Location	chr7:70084694-70084695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70084622..70086291-chr7:70088234..70089854,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10230851	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2057911	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2057912	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2057914	0.98[ASN][1000 genomes]
rs38294	0.92[EUR][1000 genomes]
rs38299	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs38300	0.83[EUR][1000 genomes]
rs3922333	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7780941	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7790577	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7792054	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer 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
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS 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
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription 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
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1024524	chr7:70031241-70138924	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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
13	nsv1029757	chr7:70061656-70190100	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv538932	chr7:70061656-70190100	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv464546	chr7:70071920-70100347	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv607432	chr7:70071920-70100347	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70077600-70085800	Weak transcription	Fetal Kidney	kidney
2	chr7:70079800-70096000	Weak transcription	Right Ventricle	heart
3	chr7:70080000-70084800	Weak transcription	Ovary	ovary
4	chr7:70080000-70092000	Weak transcription	Primary B cells from cord blood	blood
5	chr7:70080200-70084800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:70080200-70084800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:70080200-70084800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:70080200-70085400	Weak transcription	Brain Angular Gyrus	brain
9	chr7:70080200-70085400	Weak transcription	Esophagus	oesophagus
10	chr7:70080200-70085800	Weak transcription	Right Atrium	heart
11	chr7:70080600-70095000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:70080800-70086800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:70081000-70085800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:70081600-70089200	Weak transcription	Fetal Intestine Small	intestine
15	chr7:70082800-70085400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:70082800-70085800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:70082800-70086200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:70083200-70084800	Enhancers	Fetal Stomach	stomach
19	chr7:70083200-70085400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:70083200-70086000	Enhancers	Fetal Brain Male	brain
21	chr7:70083200-70086200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:70083200-70086400	Enhancers	Brain Germinal Matrix	brain
23	chr7:70083200-70086800	Enhancers	Liver	Liver
24	chr7:70083400-70085600	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:70083400-70086600	Enhancers	Brain Anterior Caudate	brain
26	chr7:70083600-70085000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:70083600-70086000	Enhancers	Brain Hippocampus Middle	brain
28	chr7:70083600-70086400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:70083600-70086400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:70083800-70085800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:70084000-70084800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr7:70084000-70085000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:70084000-70094800	Weak transcription	Fetal Lung	lung
34	chr7:70084200-70085000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:70084200-70085000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:70084200-70086200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:70084400-70085200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:70084400-70085400	Weak transcription	Fetal Brain Female	brain
39	chr7:70084400-70086000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:70084600-70085200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:70084600-70085600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr7:70084600-70085600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:70084600-70086200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:70084600-70086200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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