Variant report

Variant	rs10842642
Chromosome Location	chr12:26118568-26118569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26111412..26115023-chr12:26116224..26121847,6	MCF-7	breast:
2	chr12:26118560..26120578-chr12:26158063..26160123,2	K562	blood:

Variant related genes	Relation type
ENSG00000123094	Chromatin interaction
ENSG00000246695	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10431215	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10459081	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10771249	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771251	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10771252	0.81[ASN][1000 genomes]
rs10771253	0.81[ASN][1000 genomes]
rs10771255	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10842641	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10842645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10842646	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10842647	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10842648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10842650	0.81[ASN][1000 genomes]
rs10842651	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11048363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048365	0.81[ASN][1000 genomes]
rs11048367	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048368	0.81[ASN][1000 genomes]
rs11048370	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11048374	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12227480	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12811312	0.81[ASN][1000 genomes]
rs1874349	0.81[ASN][1000 genomes]
rs1874351	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1994995	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2643933	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61247260	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6487522	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7315752	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7956992	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7963754	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7964657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7969486	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7971740	0.81[ASN][1000 genomes]
rs7971906	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7977148	0.81[ASN][1000 genomes]
rs7979763	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26112800-26120600	Weak transcription	Pancreas	Pancrea
2	chr12:26113000-26123600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:26113400-26118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:26113400-26121800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:26113400-26123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:26113400-26123600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:26113400-26128800	Weak transcription	HSMM	muscle
9	chr12:26113800-26120600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:26113800-26122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:26113800-26122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:26113800-26124000	Weak transcription	Fetal Intestine Large	intestine
13	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
15	chr12:26114200-26125600	Weak transcription	HMEC	breast
16	chr12:26114400-26123000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:26114600-26122200	Weak transcription	NH-A	brain
18	chr12:26114600-26122400	Weak transcription	Osteobl	bone
19	chr12:26114800-26123600	Weak transcription	Fetal Lung	lung
20	chr12:26115000-26119800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:26115000-26122600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
23	chr12:26115200-26119000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:26116600-26124600	Weak transcription	NHLF	lung
25	chr12:26116800-26120400	Weak transcription	Aorta	Aorta
26	chr12:26116800-26120800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:26116800-26122600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:26116800-26123400	Weak transcription	Adipose Nuclei	Adipose
29	chr12:26117000-26120000	Weak transcription	Brain Anterior Caudate	brain
30	chr12:26117000-26120000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:26117000-26120200	Weak transcription	Brain Substantia Nigra	brain
32	chr12:26117000-26120400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:26117000-26120600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:26117000-26120600	Weak transcription	Left Ventricle	heart
35	chr12:26117000-26120600	Weak transcription	Psoas Muscle	Psoas
36	chr12:26117000-26120600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:26117000-26121000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:26117000-26121800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:26117000-26121800	Weak transcription	Lung	lung
40	chr12:26117000-26121800	Weak transcription	Right Atrium	heart
41	chr12:26117000-26122000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:26117000-26122800	Weak transcription	Spleen	Spleen
43	chr12:26117000-26123400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:26117000-26126200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:26117200-26119600	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:26117200-26119800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:26117200-26120000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:26117200-26120000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:26117200-26120200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:26117200-26120400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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