Variant report

Variant	rs9972951
Chromosome Location	chr17:66391276-66391277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66389337..66392339-chr17:66393132..66396716,3	K562	blood:
2	chr17:66390399..66392735-chr17:66392746..66395259,2	MCF-7	breast:
3	chr17:66390902..66393110-chr17:66399070..66401474,2	MCF-7	breast:
4	chr17:66286260..66290151-chr17:66389633..66391426,3	MCF-7	breast:
5	chr17:66285328..66292038-chr17:66391246..66397817,23	MCF-7	breast:
6	chr17:66390166..66392142-chr17:66393386..66395992,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141337	Chromatin interaction
ENSG00000108932	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10468442	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11653217	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655151	1.00[EUR][1000 genomes]
rs11657775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16972924	0.96[GIH][hapmap]
rs57187985	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6501422	0.96[GIH][hapmap]
rs7224186	0.96[GIH][hapmap]
rs72841846	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72841847	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72841848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72841849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72841852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72841859	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72841860	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72841861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72841866	0.86[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	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66380800-66393000	Weak transcription	Primary T cells from cord blood	blood
2	chr17:66381000-66392800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:66381000-66393000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr17:66381000-66394800	Weak transcription	Primary B cells from cord blood	blood
5	chr17:66381000-66394800	Weak transcription	Fetal Kidney	kidney
6	chr17:66383600-66395800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr17:66384000-66394400	Weak transcription	Fetal Heart	heart
8	chr17:66385400-66393000	Weak transcription	Hela-S3	cervix
9	chr17:66387800-66392600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:66388000-66394800	Weak transcription	Pancreas	Pancrea
11	chr17:66390200-66391400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr17:66390200-66392000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:66390200-66394000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr17:66390400-66391600	ZNF genes & repeats	Thymus	Thymus
15	chr17:66390400-66392000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr17:66390600-66391400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:66390600-66391600	ZNF genes & repeats	Dnd41	blood
18	chr17:66390800-66391400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:66390800-66391400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:66390800-66391400	ZNF genes & repeats	Brain Anterior Caudate	brain
21	chr17:66390800-66391600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
22	chr17:66390800-66391800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:66390800-66392000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:66391000-66391400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:66391000-66391400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:66391000-66391400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:66391000-66391400	ZNF genes & repeats	Liver	Liver
28	chr17:66391000-66391400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
29	chr17:66391000-66391400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
30	chr17:66391000-66391400	ZNF genes & repeats	Esophagus	oesophagus
31	chr17:66391000-66391400	ZNF genes & repeats	Gastric	stomach
32	chr17:66391000-66391600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:66391000-66391600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chr17:66391000-66391600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
35	chr17:66391000-66391600	ZNF genes & repeats	Aorta	Aorta
36	chr17:66391000-66391600	ZNF genes & repeats	Lung	lung
37	chr17:66391000-66391800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:66391000-66391800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
39	chr17:66391000-66392000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
40	chr17:66391000-66393000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr17:66391200-66391400	ZNF genes & repeats	Brain Hippocampus Middle	brain
42	chr17:66391200-66391400	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr17:66391200-66391600	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr17:66391200-66391600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr17:66391200-66392400	Weak transcription	HepG2	liver

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