Variant report

Variant	rs72650486
Chromosome Location	chr8:61680126-61680127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61676134..61677689-chr8:61677907..61680647,2	MCF-7	breast:
2	chr8:61670218..61671874-chr8:61679473..61681886,2	MCF-7	breast:
3	chr8:61678725..61681401-chr8:61683493..61686141,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72650472	1.00[EUR][1000 genomes]
rs72650495	1.00[EUR][1000 genomes]
rs72652506	1.00[EUR][1000 genomes]
rs72652507	1.00[EUR][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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 target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers 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 miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1797364	chr8:61658362-61696231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61657000-61690400	Weak transcription	HepG2	liver
2	chr8:61658400-61683200	Weak transcription	Fetal Intestine Large	intestine
3	chr8:61665000-61681000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:61672000-61681000	Weak transcription	NHEK	skin
5	chr8:61672000-61694400	Weak transcription	A549	lung
6	chr8:61672200-61693400	Weak transcription	Hela-S3	cervix
7	chr8:61672200-61694000	Weak transcription	HUVEC	blood vessel
8	chr8:61672600-61681000	Weak transcription	Fetal Brain Female	brain
9	chr8:61672600-61685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:61675000-61682400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:61675000-61683200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:61675000-61687000	Weak transcription	Fetal Stomach	stomach
13	chr8:61676400-61687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:61677000-61691800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:61677200-61683200	Enhancers	Fetal Heart	heart
16	chr8:61677400-61680600	Enhancers	Left Ventricle	heart
17	chr8:61677400-61682000	Enhancers	GM12878-XiMat	blood
18	chr8:61677600-61680600	Enhancers	Psoas Muscle	Psoas
19	chr8:61678000-61687600	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:61678200-61681200	Enhancers	Spleen	Spleen
21	chr8:61678200-61681400	Enhancers	Dnd41	blood
22	chr8:61678200-61683600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:61678400-61687400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:61678400-61687600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr8:61678600-61680600	Enhancers	Right Ventricle	heart
26	chr8:61678600-61681400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:61678800-61680200	Enhancers	Gastric	stomach
28	chr8:61678800-61680200	Enhancers	Pancreas	Pancrea
29	chr8:61678800-61681200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr8:61678800-61683800	Enhancers	Brain Substantia Nigra	brain
31	chr8:61678800-61687600	Enhancers	Brain Germinal Matrix	brain
32	chr8:61679000-61680200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:61679000-61680200	Enhancers	Esophagus	oesophagus
34	chr8:61679000-61680200	Enhancers	Lung	lung
35	chr8:61679000-61680400	Enhancers	Adipose Nuclei	Adipose
36	chr8:61679000-61680400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:61679000-61680600	Enhancers	Brain Angular Gyrus	brain
38	chr8:61679000-61681200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:61679000-61681200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:61679000-61681200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr8:61679000-61681200	Enhancers	Fetal Thymus	thymus
42	chr8:61679000-61681200	Enhancers	Right Atrium	heart
43	chr8:61679000-61681200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:61679000-61681400	Enhancers	Brain Anterior Caudate	brain
45	chr8:61679000-61681400	Enhancers	HSMM	muscle
46	chr8:61679000-61682000	Enhancers	Fetal Intestine Small	intestine
47	chr8:61679000-61682600	Enhancers	Stomach Mucosa	stomach
48	chr8:61679000-61683600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:61679000-61683800	Enhancers	Brain Hippocampus Middle	brain
50	chr8:61679000-61684000	Enhancers	Small Intestine	intestine

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