Variant report

Variant	rs10849861
Chromosome Location	chr12:121675307-121675308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121660603..121665110-chr12:121671733..121676729,4	K562	blood:
2	chr12:121673925..121677209-chr12:121686132..121689078,3	MCF-7	breast:
3	chr12:121666946..121669221-chr12:121671524..121675627,4	K562	blood:
4	chr12:121674738..121676448-chr12:121680498..121682374,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10774588	1.00[CEU][hapmap];0.83[CHB][hapmap];0.80[EUR][1000 genomes]
rs10774589	0.91[AMR][1000 genomes]
rs10849859	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849862	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065483	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs11065508	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1132780	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1151880	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1169717	1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1169718	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12227729	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12227751	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12298365	0.87[EUR][1000 genomes]
rs12304301	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1560568	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288692	0.91[AMR][1000 genomes]
rs25644	1.00[CEU][hapmap];0.80[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2668250	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3794202	0.91[AMR][1000 genomes]
rs3794203	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3794204	0.91[AMR][1000 genomes]
rs3794208	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3794209	0.82[EUR][1000 genomes]
rs3815989	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4980998	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59304889	0.81[ASN][1000 genomes]
rs61216528	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7975295	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7975297	0.91[AMR][1000 genomes]
rs7975910	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv455731	chr12:121668254-121687174	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv560456	chr12:121668254-121687174	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121649000-121675800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:121649000-121676200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:121649000-121676200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:121649000-121676600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:121649400-121680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:121652400-121675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:121653200-121675600	Weak transcription	HSMMtube	muscle
8	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
9	chr12:121653400-121677600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:121653400-121678600	Weak transcription	Right Atrium	heart
11	chr12:121655200-121678000	Weak transcription	Fetal Kidney	kidney
12	chr12:121657000-121676200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:121661600-121675800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:121661600-121675800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:121662000-121676800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:121662000-121679000	Weak transcription	K562	blood
17	chr12:121662400-121676400	Weak transcription	Primary B cells from cord blood	blood
18	chr12:121662800-121690600	Weak transcription	Fetal Brain Male	brain
19	chr12:121663200-121675800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:121663600-121675800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:121664000-121676200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:121665600-121676600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:121665600-121681400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:121665800-121675800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:121665800-121678600	Weak transcription	NH-A	brain
26	chr12:121666000-121676800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:121666400-121676200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr12:121666600-121679200	Strong transcription	Lung	lung
29	chr12:121667000-121675800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:121667000-121678000	Weak transcription	Left Ventricle	heart
31	chr12:121667600-121676800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:121667800-121676600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:121667800-121685200	Weak transcription	Hela-S3	cervix
34	chr12:121668400-121676400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:121668400-121677400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:121668600-121675400	Weak transcription	NHEK	skin
37	chr12:121668600-121676400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:121668600-121676400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:121668600-121678400	Weak transcription	A549	lung
40	chr12:121668600-121678400	Weak transcription	HepG2	liver
41	chr12:121668800-121675800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:121668800-121676000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:121669000-121676000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:121669200-121675800	Strong transcription	Spleen	Spleen
45	chr12:121669200-121676000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr12:121669200-121676200	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:121669800-121675800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr12:121669800-121677800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr12:121669800-121678000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:121670000-121676000	Strong transcription	Adipose Nuclei	Adipose

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