Variant report

Variant	rs17165744
Chromosome Location	chr7:12263289-12263290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12262740..12264818-chr7:12268553..12270373,2	K562	blood:
2	chr7:12260062..12264264-chr7:12265480..12268188,5	K562	blood:

Variant related genes	Relation type
ENSG00000106460	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10488193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11980425	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12699320	0.91[ASN][1000 genomes]
rs1468800	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16877361	1.00[CEU][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs17165706	0.85[JPT][hapmap]
rs17165736	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165737	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165746	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17595150	0.89[ASN][1000 genomes]
rs17595402	0.91[ASN][1000 genomes]
rs17605315	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17665337	0.91[ASN][1000 genomes]
rs60495893	0.87[ASN][1000 genomes]
rs60699002	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61225336	0.96[EUR][1000 genomes]
rs6460904	0.86[EUR][1000 genomes]
rs6978684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284389	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73299019	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73299021	0.84[AFR][1000 genomes]
rs73299037	0.82[AFR][1000 genomes]
rs73299040	0.89[AFR][1000 genomes]
rs73301035	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73301046	0.85[AFR][1000 genomes]
rs73677511	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73677523	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73677558	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73678692	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12263600	Weak transcription	Thymus	Thymus
2	chr7:12252000-12266200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:12252000-12271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:12252000-12271600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:12252000-12277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:12252000-12278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:12252000-12280000	Weak transcription	Colonic Mucosa	Colon
8	chr7:12252000-12280000	Weak transcription	Right Ventricle	heart
9	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
10	chr7:12252200-12263600	Weak transcription	NH-A	brain
11	chr7:12252200-12263800	Weak transcription	Osteobl	bone
12	chr7:12252200-12279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:12252200-12279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:12252400-12263400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:12252400-12265800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:12252400-12266000	Weak transcription	Small Intestine	intestine
17	chr7:12252400-12269400	Weak transcription	HUVEC	blood vessel
18	chr7:12252400-12271200	Weak transcription	K562	blood
19	chr7:12252400-12271400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:12252400-12272600	Weak transcription	Gastric	stomach
21	chr7:12252400-12277200	Weak transcription	Fetal Brain Male	brain
22	chr7:12252400-12278600	Weak transcription	NHEK	skin
23	chr7:12252400-12281600	Weak transcription	HSMMtube	muscle
24	chr7:12252400-12284000	Weak transcription	Fetal Intestine Small	intestine
25	chr7:12252600-12264000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:12252600-12271000	Weak transcription	Fetal Heart	heart
27	chr7:12252600-12278200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:12252600-12279600	Weak transcription	Brain Angular Gyrus	brain
29	chr7:12252800-12272600	Weak transcription	Hela-S3	cervix
30	chr7:12252800-12279000	Weak transcription	Brain Substantia Nigra	brain
31	chr7:12253200-12272400	Weak transcription	HepG2	liver
32	chr7:12254000-12279400	Strong transcription	Placenta	Placenta
33	chr7:12254400-12264600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:12254800-12266200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:12255200-12279000	Strong transcription	Liver	Liver
36	chr7:12256400-12269400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:12256400-12271000	Weak transcription	Fetal Stomach	stomach
38	chr7:12256400-12279400	Weak transcription	Psoas Muscle	Psoas
39	chr7:12256600-12263400	Weak transcription	Ovary	ovary
40	chr7:12256600-12270600	Weak transcription	Lung	lung
41	chr7:12256600-12279600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:12257200-12278400	Weak transcription	Fetal Brain Female	brain
43	chr7:12258400-12264800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:12258800-12263600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:12258800-12263600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:12258800-12272800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:12259000-12263600	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:12259000-12263600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:12259000-12277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:12259000-12278800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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