Variant report

Variant	rs7212704
Chromosome Location	chr17:33898897-33898898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10068	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037590	0.82[ASN][1000 genomes]
rs11080357	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11653310	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11656138	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1671656	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17637907	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225243	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs225247	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs225251	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs225254	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs225259	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225262	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs225277	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs225295	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs225304	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs225306	0.86[ASN][1000 genomes]
rs2840044	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28667378	0.83[EUR][1000 genomes]
rs2889311	0.82[ASN][1000 genomes]
rs8069037	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8073935	0.85[EUR][1000 genomes]
rs9891800	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9900378	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9908158	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9913003	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33895800-33904200	Weak transcription	Right Atrium	heart
2	chr17:33895800-33904800	Weak transcription	Ovary	ovary
3	chr17:33896000-33902200	Weak transcription	HSMMtube	muscle
4	chr17:33896000-33903800	Weak transcription	Brain Angular Gyrus	brain
5	chr17:33896000-33904800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:33896200-33905000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:33896200-33905000	Weak transcription	Aorta	Aorta
8	chr17:33896400-33899600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:33896400-33899600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:33896400-33900600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr17:33896400-33901200	Weak transcription	Placenta	Placenta
12	chr17:33896400-33901600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr17:33896400-33902000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr17:33896400-33904000	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:33896400-33904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:33896400-33904200	Weak transcription	Psoas Muscle	Psoas
17	chr17:33896400-33904600	Weak transcription	Stomach Mucosa	stomach
18	chr17:33896400-33904800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr17:33896400-33904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:33896400-33904800	Weak transcription	Colonic Mucosa	Colon
21	chr17:33896400-33904800	Weak transcription	Esophagus	oesophagus
22	chr17:33896400-33904800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr17:33896400-33904800	Weak transcription	Right Ventricle	heart
24	chr17:33896400-33905000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:33896400-33905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:33896600-33899000	Weak transcription	Fetal Thymus	thymus
27	chr17:33896600-33904400	Weak transcription	Brain Substantia Nigra	brain
28	chr17:33896800-33899600	Weak transcription	Left Ventricle	heart
29	chr17:33896800-33900600	Weak transcription	HSMM	muscle
30	chr17:33896800-33900800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr17:33896800-33901400	Weak transcription	Primary B cells from cord blood	blood
32	chr17:33896800-33902400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr17:33896800-33903600	Weak transcription	NH-A	brain
34	chr17:33896800-33904000	Weak transcription	Pancreas	Pancrea
35	chr17:33896800-33904000	Weak transcription	Osteobl	bone
36	chr17:33896800-33904200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr17:33897000-33899000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:33897000-33899000	Enhancers	Fetal Lung	lung
39	chr17:33897000-33899400	Weak transcription	Fetal Muscle Leg	muscle
40	chr17:33897000-33899400	Weak transcription	Thymus	Thymus
41	chr17:33897000-33899600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr17:33897000-33900600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr17:33897000-33900800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr17:33897000-33900800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr17:33897000-33901200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr17:33897000-33902000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr17:33897000-33902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr17:33897000-33904400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr17:33897200-33899000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr17:33897400-33899000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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