Variant report

Variant	rs17223391
Chromosome Location	chr12:65065298-65065299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:65039325..65042042-chr12:65062487..65065547,3	K562	blood:
2	chr12:65002347..65007779-chr12:65064758..65067208,6	MCF-7	breast:
3	chr12:65064246..65067121-chr12:65074124..65076207,3	K562	blood:
4	chr12:65065244..65066840-chr12:65091744..65094557,2	MCF-7	breast:
5	chr12:65002496..65005791-chr12:65064142..65070485,7	K562	blood:
6	chr12:65002390..65006169-chr12:65065133..65068726,5	MCF-7	breast:
7	chr12:65019020..65021619-chr12:65065192..65067422,3	MCF-7	breast:
8	chr12:65002391..65005791-chr12:65064142..65070932,8	K562	blood:
9	chr12:65054936..65056811-chr12:65063750..65065750,2	MCF-7	breast:
10	chr12:65061393..65063543-chr12:65063755..65066081,2	MCF-7	breast:
11	chr12:64844936..64846665-chr12:65064871..65067431,2	MCF-7	breast:
12	chr12:65057089..65063734-chr12:65063788..65069344,8	K562	blood:
13	chr12:65019263..65021039-chr12:65064985..65067371,4	MCF-7	breast:
14	chr12:65065240..65066936-chr12:65070713..65072619,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183735	Chromatin interaction
ENSG00000256670	Chromatin interaction
ENSG00000153179	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1008159	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1008160	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11175470	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11175471	1.00[CEU][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11175476	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175478	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11175481	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175497	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11175509	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12230536	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12814316	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816847	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12824246	0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12830436	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12833931	0.87[EUR][1000 genomes]
rs17223244	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17223377	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17823442	0.87[EUR][1000 genomes]
rs2078398	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35512928	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35674528	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35705715	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35860561	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7303641	0.82[EUR][1000 genomes]
rs7304648	0.82[EUR][1000 genomes]
rs7959471	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65058400-65069600	Enhancers	Small Intestine	intestine
2	chr12:65058800-65066600	Enhancers	Stomach Mucosa	stomach
3	chr12:65058800-65070000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr12:65059000-65065800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:65059400-65066000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:65059400-65068800	Enhancers	Fetal Intestine Large	intestine
7	chr12:65060000-65073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:65060200-65069200	Weak transcription	Osteobl	bone
9	chr12:65060400-65065600	Enhancers	Spleen	Spleen
10	chr12:65060600-65066400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:65060800-65066400	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:65061600-65067600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:65061800-65066200	Weak transcription	Ovary	ovary
14	chr12:65061800-65069800	Enhancers	Fetal Intestine Small	intestine
15	chr12:65062000-65065600	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr12:65062600-65068200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:65062600-65069600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:65062600-65070000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:65062600-65071600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:65062800-65065400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr12:65062800-65065400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr12:65062800-65065600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:65062800-65065800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:65062800-65067600	Enhancers	HMEC	breast
25	chr12:65062800-65068600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:65062800-65068600	Enhancers	Fetal Lung	lung
27	chr12:65063000-65065400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:65063000-65065400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr12:65063000-65065400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:65063000-65065800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:65063000-65067400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:65063000-65069600	Enhancers	Pancreas	Pancrea
33	chr12:65063000-65070000	Enhancers	Lung	lung
34	chr12:65063000-65071400	Enhancers	Left Ventricle	heart
35	chr12:65063400-65065400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:65063400-65065400	Enhancers	Right Atrium	heart
37	chr12:65063400-65066400	Enhancers	Fetal Muscle Leg	muscle
38	chr12:65063400-65066600	Weak transcription	Brain Substantia Nigra	brain
39	chr12:65063400-65068800	Enhancers	Placenta	Placenta
40	chr12:65063600-65065600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr12:65063600-65065600	Enhancers	HepG2	liver
42	chr12:65063600-65066400	Weak transcription	Aorta	Aorta
43	chr12:65063600-65066600	Enhancers	Fetal Heart	heart
44	chr12:65063600-65066800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:65063600-65066800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:65063600-65068600	Enhancers	Adipose Nuclei	Adipose
47	chr12:65063600-65069600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:65063600-65071400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:65063600-65073400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr12:65063800-65065600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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