Variant report

Variant	rs40890
Chromosome Location	chr7:108163984-108163985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:108163432..108166048-chr7:108192942..108195517,2	K562	blood:
2	chr7:108159403..108171484-chr7:108200740..108214365,45	K562	blood:
3	chr7:108163188..108164833-chr7:108174026..108175540,2	K562	blood:
4	chr7:108162967..108170259-chr7:108208242..108216228,25	MCF-7	breast:
5	chr7:108163136..108166047-chr7:108214620..108217426,3	K562	blood:
6	chr7:108163122..108173185-chr7:108207236..108216619,40	K562	blood:
7	chr7:108155944..108157453-chr7:108161889..108164868,2	MCF-7	breast:

No data

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

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10273997	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10278246	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1034829	0.80[EUR][1000 genomes]
rs13244602	0.93[EUR][1000 genomes]
rs1473131	0.93[EUR][1000 genomes]
rs17339110	0.93[EUR][1000 genomes]
rs1859769	0.88[EUR][1000 genomes]
rs1859771	0.93[EUR][1000 genomes]
rs1859772	0.94[EUR][1000 genomes]
rs1859774	0.93[EUR][1000 genomes]
rs1859775	0.93[EUR][1000 genomes]
rs194585	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194586	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074752	0.80[ASN][1000 genomes]
rs2214916	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2284291	0.81[EUR][1000 genomes]
rs2284292	0.80[EUR][1000 genomes]
rs2300053	0.81[EUR][1000 genomes]
rs2396001	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3763462	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3815252	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40846	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40849	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs40856	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40864	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs40903	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466239	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6466240	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6966431	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6976478	0.83[EUR][1000 genomes]
rs726471	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73426110	0.91[EUR][1000 genomes]
rs7800334	0.93[EUR][1000 genomes]
rs7806223	0.93[EUR][1000 genomes]
rs917251	0.81[EUR][1000 genomes]
rs9640707	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9785006	0.94[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:127 , 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	chr7:108141400-108165000	Weak transcription	Spleen	Spleen
7	chr7:108144600-108164000	Weak transcription	Fetal Brain Male	brain
8	chr7:108147600-108164400	Weak transcription	Stomach Mucosa	stomach
9	chr7:108148200-108165000	Weak transcription	Fetal Stomach	stomach
10	chr7:108149400-108165600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:108152400-108164200	Weak transcription	HMEC	breast
12	chr7:108153600-108165800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:108156000-108164600	Weak transcription	HUVEC	blood vessel
14	chr7:108158400-108165000	Weak transcription	Lung	lung
15	chr7:108158600-108164600	Weak transcription	HSMM	muscle
16	chr7:108158600-108164800	Weak transcription	A549	lung
17	chr7:108158600-108165000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:108158800-108164000	Weak transcription	Osteobl	bone
19	chr7:108158800-108164200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:108158800-108164200	Weak transcription	Esophagus	oesophagus
21	chr7:108158800-108164200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:108158800-108164400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:108158800-108164400	Weak transcription	NHEK	skin
24	chr7:108158800-108165600	Weak transcription	Aorta	Aorta
25	chr7:108159000-108164000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:108159000-108164000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:108159000-108164000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:108159000-108164200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:108159000-108164400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:108159000-108164400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:108159000-108164400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:108159000-108164600	Weak transcription	Fetal Kidney	kidney
33	chr7:108159000-108164800	Weak transcription	NHLF	lung
34	chr7:108159000-108165200	Weak transcription	Fetal Brain Female	brain
35	chr7:108159200-108164000	Weak transcription	Fetal Thymus	thymus
36	chr7:108159200-108165000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:108160200-108164600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:108160400-108164000	Weak transcription	Placenta	Placenta
39	chr7:108160600-108164200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:108160600-108164800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:108160600-108165200	Weak transcription	HSMMtube	muscle
42	chr7:108160600-108165600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:108161000-108164000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:108161000-108164200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:108161000-108164400	Weak transcription	Brain Substantia Nigra	brain
46	chr7:108161400-108165000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:108161600-108165000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:108161600-108165200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr7:108161600-108165200	Enhancers	Liver	Liver
50	chr7:108161600-108165200	Weak transcription	Rectal Mucosa Donor 31	rectum

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