Variant report

Variant	rs17110076
Chromosome Location	chr1:94031172-94031173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94009051..94012452-chr1:94031131..94034191,3	K562	blood:
2	chr1:94029657..94032130-chr1:94170666..94173622,2	K562	blood:
3	chr1:93912737..93915028-chr1:94030798..94033123,2	MCF-7	breast:
4	chr1:94030537..94032103-chr1:94042791..94044615,2	K562	blood:
5	chr1:94021702..94024985-chr1:94029081..94032053,4	K562	blood:

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12563504	0.89[EUR][1000 genomes]
rs12566373	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12568405	0.81[EUR][1000 genomes]
rs1618866	0.81[EUR][1000 genomes]
rs1740068	0.81[EUR][1000 genomes]
rs182913	0.81[EUR][1000 genomes]
rs2295330	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs236266	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs236274	0.81[EUR][1000 genomes]
rs236275	0.81[EUR][1000 genomes]
rs236278	0.81[EUR][1000 genomes]
rs236281	0.81[EUR][1000 genomes]
rs236295	1.00[CEU][hapmap]
rs236296	1.00[CEU][hapmap]
rs35115771	0.89[EUR][1000 genomes]
rs3754189	1.00[EUR][1000 genomes]
rs3767973	0.88[EUR][1000 genomes]
rs3767979	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3767981	0.81[EUR][1000 genomes]
rs3767987	0.81[EUR][1000 genomes]
rs3767991	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs41292649	0.81[EUR][1000 genomes]
rs57012808	0.88[EUR][1000 genomes]
rs57466479	0.88[EUR][1000 genomes]
rs57914444	0.88[EUR][1000 genomes]
rs59777284	0.88[EUR][1000 genomes]
rs60159857	0.81[EUR][1000 genomes]
rs6541380	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6674143	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6699020	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes]
rs7524368	0.88[EUR][1000 genomes]
rs7546785	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011853	chr1:93966450-94039005	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93973400-94032000	Weak transcription	Esophagus	oesophagus
2	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:94016800-94031600	Weak transcription	Fetal Stomach	stomach
4	chr1:94018400-94031600	Weak transcription	Spleen	Spleen
5	chr1:94018600-94031600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:94018600-94037400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:94019000-94031800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:94019000-94032000	Weak transcription	Brain Germinal Matrix	brain
9	chr1:94019200-94031200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:94019200-94037400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:94020200-94034200	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:94020800-94033200	Weak transcription	Psoas Muscle	Psoas
13	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
14	chr1:94021000-94031600	Weak transcription	Colonic Mucosa	Colon
15	chr1:94021000-94031600	Weak transcription	K562	blood
16	chr1:94021000-94031800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:94021000-94032600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:94021000-94041200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:94022200-94031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:94022200-94044200	Weak transcription	Small Intestine	intestine
21	chr1:94023600-94031400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:94024000-94044200	Strong transcription	HSMM	muscle
23	chr1:94024200-94031800	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr1:94024200-94032800	Strong transcription	A549	lung
25	chr1:94024400-94040200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:94024600-94033200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:94024800-94031600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:94024800-94032800	Strong transcription	HMEC	breast
29	chr1:94025000-94032800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:94025000-94032800	Strong transcription	NHEK	skin
31	chr1:94025000-94037600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:94025000-94043400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:94025200-94031400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:94025200-94032800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:94025200-94033200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:94025200-94033600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:94025200-94043000	Strong transcription	Liver	Liver
38	chr1:94025200-94043000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr1:94025400-94031600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:94025400-94031600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:94025400-94049400	Strong transcription	Hela-S3	cervix
42	chr1:94025600-94031600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:94025600-94031600	Weak transcription	Pancreas	Pancrea
44	chr1:94025600-94032000	Weak transcription	Aorta	Aorta
45	chr1:94025600-94035000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:94025600-94043400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
48	chr1:94025800-94037000	Weak transcription	Brain Angular Gyrus	brain
49	chr1:94026000-94036000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:94026400-94031400	Weak transcription	Ovary	ovary

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