Variant report

Variant	rs17096361
Chromosome Location	chr12:46348859-46348860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46340522..46343768-chr12:46347527..46351157,4	K562	blood:
2	chr12:46348389..46350985-chr12:46373470..46376418,2	K562	blood:
3	chr12:46344313..46347392-chr12:46347500..46350157,3	MCF-7	breast:
4	chr12:46348001..46351847-chr12:46352857..46355917,3	K562	blood:
5	chr12:46348656..46350244-chr12:46353257..46355450,2	MCF-7	breast:
6	chr12:46338501..46342141-chr12:46348337..46351677,3	K562	blood:

Variant related genes	Relation type
ENSG00000139218	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10161306	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1062905	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880867	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880873	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880874	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880883	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11183210	0.81[EUR][1000 genomes]
rs11183217	0.81[EUR][1000 genomes]
rs11183223	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11183226	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183228	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183229	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183234	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183251	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183273	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11183275	0.92[ASN][1000 genomes]
rs11574964	0.93[ASN][1000 genomes]
rs12318248	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1427750	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17096308	0.91[ASN][1000 genomes]
rs1896539	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2408437	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4144983	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4768099	0.93[ASN][1000 genomes]
rs4768100	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768667	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4768670	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768672	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4768673	0.92[ASN][1000 genomes]
rs4768674	0.83[ASN][1000 genomes]
rs4768675	0.83[ASN][1000 genomes]
rs56146240	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56176440	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61924070	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67136007	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs735351	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv3439887	chr12:46337377-46370366	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46299000-46381000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:46319200-46362800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:46322600-46360200	Weak transcription	Fetal Brain Male	brain
4	chr12:46324400-46351600	Weak transcription	Psoas Muscle	Psoas
5	chr12:46326600-46360400	Weak transcription	Small Intestine	intestine
6	chr12:46329200-46351800	Weak transcription	Fetal Heart	heart
7	chr12:46329800-46371000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:46330400-46358800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:46331400-46351200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:46336400-46351600	Weak transcription	Aorta	Aorta
11	chr12:46338200-46356000	Weak transcription	Fetal Brain Female	brain
12	chr12:46338800-46359800	Weak transcription	Brain Angular Gyrus	brain
13	chr12:46338800-46360000	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:46338800-46360000	Weak transcription	Brain Substantia Nigra	brain
15	chr12:46340000-46356600	Weak transcription	Brain Anterior Caudate	brain
16	chr12:46341600-46355200	Weak transcription	HMEC	breast
17	chr12:46341800-46365600	Weak transcription	K562	blood
18	chr12:46342000-46349000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:46342000-46355200	Weak transcription	Esophagus	oesophagus
20	chr12:46342000-46356600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:46342000-46358400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:46342000-46360400	Weak transcription	Ovary	ovary
23	chr12:46342000-46360800	Weak transcription	Lung	lung
24	chr12:46342000-46362400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:46342000-46362400	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:46342000-46362400	Weak transcription	Pancreas	Pancrea
27	chr12:46342000-46363000	Weak transcription	Fetal Stomach	stomach
28	chr12:46342000-46364000	Weak transcription	Gastric	stomach
29	chr12:46342200-46351600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:46342200-46351600	Weak transcription	Left Ventricle	heart
31	chr12:46342200-46353600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:46342200-46356200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:46342200-46356600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:46342200-46358800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:46342200-46359200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:46342200-46359800	Weak transcription	NHLF	lung
37	chr12:46342200-46360200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:46342200-46361000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:46342200-46365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:46342200-46369000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:46342400-46353000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:46342400-46353600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:46342400-46355000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:46342400-46360200	Weak transcription	Colonic Mucosa	Colon
45	chr12:46342600-46355600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:46342600-46355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:46342600-46355600	Weak transcription	HUVEC	blood vessel
48	chr12:46342600-46356400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:46342800-46349600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:46342800-46353000	Weak transcription	NHDF-Ad	bronchial

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