Variant report

Variant	rs10842646
Chromosome Location	chr12:26121931-26121932
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:25985207..25987906-chr12:26120297..26122847,2	MCF-7	breast:
2	chr12:26110508..26112354-chr12:26121125..26124045,2	MCF-7	breast:
3	chr12:26112991..26115825-chr12:26120756..26122747,2	MCF-7	breast:
4	chr12:26119397..26121989-chr12:26127514..26129240,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123094	Chromatin interaction
ENSG00000246695	Chromatin interaction
ENSG00000256440	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10771249	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10771250	0.94[JPT][hapmap]
rs10771251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771256	0.87[ASN][1000 genomes]
rs10842641	0.82[ASN][1000 genomes]
rs10842642	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10842645	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10842647	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10842648	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10842650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048363	0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11048364	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11048365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048367	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11048368	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048385	0.89[ASN][1000 genomes]
rs12811312	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1797944	0.81[CEU][hapmap]
rs1874349	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2063620	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6487522	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs706529	0.81[CEU][hapmap]
rs706536	0.81[CEU][hapmap]
rs7964657	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7971740	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977148	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979763	0.90[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26113000-26123600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:26113400-26123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:26113400-26123600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:26113400-26128800	Weak transcription	HSMM	muscle
6	chr12:26113800-26122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:26113800-26122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:26113800-26124000	Weak transcription	Fetal Intestine Large	intestine
9	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:26114200-26125600	Weak transcription	HMEC	breast
12	chr12:26114400-26123000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:26114600-26122200	Weak transcription	NH-A	brain
14	chr12:26114600-26122400	Weak transcription	Osteobl	bone
15	chr12:26114800-26123600	Weak transcription	Fetal Lung	lung
16	chr12:26115000-26122600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
18	chr12:26116600-26124600	Weak transcription	NHLF	lung
19	chr12:26116800-26122600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:26116800-26123400	Weak transcription	Adipose Nuclei	Adipose
21	chr12:26117000-26122000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:26117000-26122800	Weak transcription	Spleen	Spleen
23	chr12:26117000-26123400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:26117000-26126200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:26117200-26122000	Weak transcription	NHDF-Ad	bronchial
26	chr12:26117200-26122400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:26117200-26124000	Weak transcription	Fetal Stomach	stomach
28	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
29	chr12:26117400-26126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
31	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:26119200-26122400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:26119600-26124400	Enhancers	Brain Hippocampus Middle	brain
34	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:26119800-26124400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:26120000-26122200	Enhancers	Brain Cingulate Gyrus	brain
37	chr12:26120000-26124000	Enhancers	Colon Smooth Muscle	Colon
38	chr12:26120000-26125000	Enhancers	Brain Anterior Caudate	brain
39	chr12:26120000-26127400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr12:26120200-26122600	Enhancers	Stomach Smooth Muscle	stomach
41	chr12:26120200-26124600	Enhancers	Brain Substantia Nigra	brain
42	chr12:26120600-26122200	Enhancers	Pancreas	Pancrea
43	chr12:26120600-26125000	Enhancers	Ovary	ovary
44	chr12:26120600-26125000	Enhancers	Psoas Muscle	Psoas
45	chr12:26120800-26123600	Weak transcription	Right Ventricle	heart
46	chr12:26120800-26123800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr12:26121000-26123200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:26121000-26123400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:26121200-26122000	Weak transcription	Aorta	Aorta

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