Variant report

Variant	rs35774093
Chromosome Location	chr8:126171645-126171646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126168565..126172282-chr8:126176339..126178191,3	MCF-7	breast:
2	chr8:126168096..126171201-chr8:126171348..126174534,3	K562	blood:
3	chr8:126168784..126172099-chr8:126441385..126444264,3	MCF-7	breast:
4	chr12:122240264..122242429-chr8:126171268..126172917,2	MCF-7	breast:
5	chr8:126167671..126170997-chr8:126171128..126173953,3	MCF-7	breast:
6	chr8:126159964..126163627-chr8:126168529..126173031,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139718	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12675943	0.84[EUR][1000 genomes]
rs13253942	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262348	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13264500	0.94[EUR][1000 genomes]
rs13267325	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273034	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273421	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277490	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900452	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310558	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401283	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2384882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34110249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246020	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34298715	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34461511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694976	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34737949	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34903473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033076	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140299	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35215140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336507	0.86[EUR][1000 genomes]
rs35401436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35475899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564243	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35861494	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35955519	0.86[EUR][1000 genomes]
rs35991395	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081564	1.00[ASN][1000 genomes]
rs3923300	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4360308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477044	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601329	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4871570	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56135036	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66561774	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826725	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66929016	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71516763	0.92[ASN][1000 genomes]
rs71516769	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720569	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
2	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
3	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
9	chr8:126143200-126180600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:126143200-126186800	Weak transcription	Adipose Nuclei	Adipose
11	chr8:126154000-126175600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:126155800-126175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:126156600-126180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:126156600-126185400	Weak transcription	Lung	lung
15	chr8:126156600-126199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:126156800-126172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:126157000-126172400	Weak transcription	Brain Anterior Caudate	brain
18	chr8:126157200-126172400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:126157400-126186400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:126157600-126172400	Weak transcription	Brain Angular Gyrus	brain
21	chr8:126157600-126172400	Weak transcription	Brain Substantia Nigra	brain
22	chr8:126158200-126186600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:126158600-126172600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:126158600-126173200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:126158600-126180600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:126158600-126185400	Weak transcription	Placenta	Placenta
27	chr8:126160600-126179000	Weak transcription	Spleen	Spleen
28	chr8:126160600-126180400	Weak transcription	HUVEC	blood vessel
29	chr8:126160600-126181800	Weak transcription	Right Atrium	heart
30	chr8:126160600-126185400	Weak transcription	Aorta	Aorta
31	chr8:126160600-126187400	Weak transcription	Gastric	stomach
32	chr8:126161400-126175800	Weak transcription	HepG2	liver
33	chr8:126162200-126186600	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:126162600-126183000	Weak transcription	Psoas Muscle	Psoas
35	chr8:126163200-126172000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:126163200-126174800	Weak transcription	Hela-S3	cervix
37	chr8:126163200-126180600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:126163200-126193200	Weak transcription	Ovary	ovary
39	chr8:126163600-126180600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:126164000-126181800	Weak transcription	Fetal Lung	lung
41	chr8:126164200-126174800	Weak transcription	NHDF-Ad	bronchial
42	chr8:126164200-126185200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:126164200-126185400	Weak transcription	HSMMtube	muscle
44	chr8:126164400-126174800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:126164400-126174800	Weak transcription	NHLF	lung
46	chr8:126164400-126174800	Weak transcription	Osteobl	bone
47	chr8:126164400-126179400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:126164400-126180400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:126164400-126181400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:126164400-126186000	Weak transcription	NH-A	brain

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