Variant report

Variant	rs12705474
Chromosome Location	chr7:108162732-108162733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:108159403..108171484-chr7:108200740..108214365,45	K562	blood:
2	chr7:108161999..108163677-chr7:108165000..108166680,2	MCF-7	breast:
3	chr7:108152908..108154653-chr7:108162205..108163913,2	K562	blood:
4	chr7:108155135..108157387-chr7:108160534..108162897,2	K562	blood:
5	chr7:108154890..108162900-chr7:108163401..108168908,16	K562	blood:
6	chr7:108155944..108157453-chr7:108161889..108164868,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128590	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000177683	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11971386	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11983802	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11983842	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12530879	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12538539	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12540029	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13239792	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872576	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872577	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34164886	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34459886	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34771129	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34827770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34915298	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34959248	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35220845	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35444439	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3752639	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3763460	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763463	0.91[EUR][1000 genomes]
rs60117684	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6964631	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6980319	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71568523	0.89[EUR][1000 genomes]
rs71568529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71568531	0.92[ASN][1000 genomes]
rs71568533	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786180	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9641410	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108113800-108165800	Weak transcription	Gastric	stomach
2	chr7:108114000-108165000	Weak transcription	Colonic Mucosa	Colon
3	chr7:108117800-108164200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:108130000-108165000	Weak transcription	Pancreas	Pancrea
5	chr7:108130800-108165000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:108136000-108163000	Weak transcription	HepG2	liver
7	chr7:108141400-108165000	Weak transcription	Spleen	Spleen
8	chr7:108144600-108164000	Weak transcription	Fetal Brain Male	brain
9	chr7:108147600-108164400	Weak transcription	Stomach Mucosa	stomach
10	chr7:108148200-108163000	Weak transcription	Fetal Intestine Small	intestine
11	chr7:108148200-108165000	Weak transcription	Fetal Stomach	stomach
12	chr7:108149400-108165600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:108150800-108162800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:108152400-108163000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:108152400-108163600	Weak transcription	NHDF-Ad	bronchial
16	chr7:108152400-108164200	Weak transcription	HMEC	breast
17	chr7:108153600-108165800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:108156000-108163200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:108156000-108164600	Weak transcription	HUVEC	blood vessel
20	chr7:108158400-108165000	Weak transcription	Lung	lung
21	chr7:108158600-108163400	Weak transcription	Right Ventricle	heart
22	chr7:108158600-108163600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:108158600-108163800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:108158600-108164600	Weak transcription	HSMM	muscle
25	chr7:108158600-108164800	Weak transcription	A549	lung
26	chr7:108158600-108165000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:108158800-108163600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:108158800-108163600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:108158800-108163600	Weak transcription	NH-A	brain
30	chr7:108158800-108163800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:108158800-108163800	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:108158800-108164000	Weak transcription	Osteobl	bone
33	chr7:108158800-108164200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:108158800-108164200	Weak transcription	Esophagus	oesophagus
35	chr7:108158800-108164200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:108158800-108164400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:108158800-108164400	Weak transcription	NHEK	skin
38	chr7:108158800-108165600	Weak transcription	Aorta	Aorta
39	chr7:108159000-108162800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:108159000-108162800	Weak transcription	Brain Germinal Matrix	brain
41	chr7:108159000-108163000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:108159000-108163200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:108159000-108163200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:108159000-108163200	Weak transcription	Fetal Lung	lung
45	chr7:108159000-108163400	Weak transcription	Small Intestine	intestine
46	chr7:108159000-108163600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:108159000-108163600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:108159000-108163800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:108159000-108163800	Weak transcription	GM12878-XiMat	blood
50	chr7:108159000-108164000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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