Variant report

Variant	rs10861169
Chromosome Location	chr12:104610640-104610641
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: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10745993	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10745995	0.81[JPT][hapmap]
rs10745996	0.81[JPT][hapmap]
rs10778311	0.81[JPT][hapmap]
rs10778316	0.88[JPT][hapmap]
rs10778318	0.81[JPT][hapmap]
rs10861170	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861171	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs10861180	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11111940	0.81[YRI][hapmap]
rs11111960	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs11111963	0.81[JPT][hapmap]
rs12424869	0.88[JPT][hapmap]
rs17035324	1.00[JPT][hapmap]
rs17806643	0.81[CHB][hapmap]
rs4129598	1.00[JPT][hapmap]
rs4246264	1.00[JPT][hapmap]
rs4321026	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4388968	1.00[JPT][hapmap]
rs4406890	1.00[JPT][hapmap]
rs4475991	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4545635	1.00[JPT][hapmap]
rs4614534	0.89[JPT][hapmap]
rs4964256	0.82[AFR][1000 genomes]
rs4964260	1.00[JPT][hapmap]
rs4964678	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4964728	0.90[JPT][hapmap]
rs4964735	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs4964752	0.81[JPT][hapmap]
rs4964761	0.81[JPT][hapmap]
rs60903309	0.93[AFR][1000 genomes]
rs6539130	0.82[AFR][1000 genomes]
rs7132418	0.86[JPT][hapmap]
rs7137288	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7138523	0.81[JPT][hapmap]
rs7297296	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7297956	0.81[YRI][hapmap]
rs7310505	0.90[JPT][hapmap]
rs7313063	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314893	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73392585	0.84[AFR][1000 genomes]
rs7342395	0.81[JPT][hapmap]
rs7958262	0.93[YRI][hapmap]
rs7966970	0.88[AFR][1000 genomes]
rs7966973	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7975161	1.00[JPT][hapmap]
rs7975524	0.93[YRI][hapmap];0.86[AFR][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	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104609800-104612200	Weak transcription	NHDF-Ad	bronchial
2	chr12:104610000-104610800	Flanking Active TSS	Hela-S3	cervix
3	chr12:104610000-104612800	Weak transcription	Esophagus	oesophagus
4	chr12:104610000-104612800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:104610000-104613000	Weak transcription	HepG2	liver
6	chr12:104610000-104613200	Weak transcription	Fetal Kidney	kidney
7	chr12:104610000-104613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:104610200-104610800	Enhancers	Placenta	Placenta
9	chr12:104610200-104611000	Flanking Active TSS	A549	lung
10	chr12:104610200-104611200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:104610200-104611800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:104610200-104612200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:104610200-104612200	Weak transcription	HSMMtube	muscle
14	chr12:104610200-104612400	Weak transcription	HSMM	muscle
15	chr12:104610200-104612600	Weak transcription	Lung	lung
16	chr12:104610200-104612800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:104610200-104612800	Weak transcription	Pancreas	Pancrea
18	chr12:104610200-104612800	Weak transcription	Small Intestine	intestine
19	chr12:104610200-104612800	Weak transcription	K562	blood
20	chr12:104610200-104612800	Weak transcription	NH-A	brain
21	chr12:104610200-104613000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:104610200-104613200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:104610200-104613600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:104610200-104613800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:104610200-104614800	Weak transcription	Gastric	stomach
26	chr12:104610400-104610800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:104610400-104610800	Enhancers	Ovary	ovary
28	chr12:104610400-104610800	Enhancers	Right Atrium	heart
29	chr12:104610400-104610800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:104610400-104611000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:104610400-104611800	Weak transcription	Left Ventricle	heart
32	chr12:104610400-104612000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:104610400-104612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:104610400-104612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:104610400-104612000	Weak transcription	NHLF	lung
36	chr12:104610400-104612200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:104610400-104612200	Weak transcription	HMEC	breast
38	chr12:104610400-104612400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:104610400-104612600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:104610400-104612800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:104610400-104612800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:104610400-104612800	Weak transcription	Brain Substantia Nigra	brain
43	chr12:104610400-104612800	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:104610400-104612800	Weak transcription	Fetal Heart	heart
45	chr12:104610400-104612800	Weak transcription	Osteobl	bone
46	chr12:104610400-104613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:104610400-104613000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:104610400-104613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:104610400-104613000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:104610400-104613000	Weak transcription	Fetal Lung	lung

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