Variant report

Variant	rs17807362
Chromosome Location	chr12:104610241-104610242
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104609767..104612445-chr12:104684528..104686596,2	K562	blood:
2	chr12:104601466..104604369-chr12:104609753..104612151,2	K562	blood:
3	chr12:104609573..104611470-chr12:104617391..104620267,2	K562	blood:
4	chr12:104609968..104613463-chr12:104614519..104618118,3	K562	blood:
5	chr12:104608375..104610840-chr12:104681920..104683609,3	MCF-7	breast:
6	chr12:104609776..104613159-chr12:104643212..104646798,4	K562	blood:
7	chr12:104606650..104611349-chr12:104679680..104683932,8	K562	blood:
8	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:
9	chr12:104458967..104460937-chr12:104609571..104611178,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10861184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes]
rs10861201	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10861203	1.00[CHB][hapmap]
rs11111974	0.83[AMR][1000 genomes]
rs11111975	0.83[AMR][1000 genomes]
rs11112003	1.00[CHB][hapmap]
rs1128446	1.00[CHB][hapmap]
rs11829922	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836627	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11837739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838277	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299450	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12303096	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307313	0.83[AMR][1000 genomes]
rs12320661	0.92[EUR][1000 genomes]
rs17035201	0.86[LWK][hapmap]
rs17035253	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17035296	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17806643	1.00[LWK][hapmap];0.90[YRI][hapmap]
rs35861067	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4523760	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs57040145	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57416848	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57718153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58729796	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59185359	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59945395	0.85[EUR][1000 genomes]
rs60264625	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61690515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134193	1.00[CHB][hapmap]
rs7296260	0.86[ASN][1000 genomes]
rs73392529	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73392542	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73392580	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392594	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394503	0.94[EUR][1000 genomes]
rs73394521	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394563	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962942	1.00[CHB][hapmap];1.00[CHD][hapmap]

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	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104609200-104610400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:104609200-104610400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:104609200-104610400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:104609200-104610400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr12:104609200-104610400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:104609200-104610400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:104609200-104610400	Enhancers	Fetal Heart	heart
8	chr12:104609200-104610400	Active TSS	Fetal Lung	lung
9	chr12:104609200-104610400	Enhancers	Stomach Mucosa	stomach
10	chr12:104609200-104610400	Flanking Active TSS	HUVEC	blood vessel
11	chr12:104609200-104610400	Active TSS	NHLF	lung
12	chr12:104609400-104610400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr12:104609400-104610400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:104609400-104610400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:104609400-104610400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr12:104609400-104610400	Active TSS	Left Ventricle	heart
17	chr12:104609400-104610400	Active TSS	Osteobl	bone
18	chr12:104609400-104610600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:104609400-104610600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:104609600-104610400	Active TSS	Brain Substantia Nigra	brain
21	chr12:104609600-104610400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
22	chr12:104609600-104610400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr12:104609800-104610400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr12:104609800-104610400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr12:104609800-104610400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr12:104609800-104610400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
27	chr12:104609800-104612200	Weak transcription	NHDF-Ad	bronchial
28	chr12:104610000-104610400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:104610000-104610400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr12:104610000-104610400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr12:104610000-104610400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:104610000-104610400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr12:104610000-104610400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:104610000-104610400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr12:104610000-104610400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr12:104610000-104610400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr12:104610000-104610400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr12:104610000-104610400	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr12:104610000-104610400	Flanking Active TSS	Right Ventricle	heart
40	chr12:104610000-104610400	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr12:104610000-104610400	Flanking Active TSS	NHEK	skin
42	chr12:104610000-104610800	Flanking Active TSS	Hela-S3	cervix
43	chr12:104610000-104612800	Weak transcription	Esophagus	oesophagus
44	chr12:104610000-104612800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:104610000-104613000	Weak transcription	HepG2	liver
46	chr12:104610000-104613200	Weak transcription	Fetal Kidney	kidney
47	chr12:104610000-104613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:104610200-104610400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr12:104610200-104610400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr12:104610200-104610400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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