Variant report

Variant	rs7977148
Chromosome Location	chr12:26124834-26124835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26111209..26114170-chr12:26124306..26125850,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123094	Chromatin interaction
ENSG00000246695	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10771249	0.81[ASN][1000 genomes]
rs10771250	0.81[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap]
rs10771251	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771252	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771253	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[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	0.81[ASN][1000 genomes]
rs10842645	0.82[ASN][1000 genomes]
rs10842646	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]
rs10842647	0.82[ASN][1000 genomes]
rs10842648	0.82[ASN][1000 genomes]
rs10842650	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048363	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs11048364	0.82[ASN][1000 genomes]
rs11048365	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048367	0.82[ASN][1000 genomes]
rs11048368	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048385	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12811312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874349	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1994995	0.89[MEX][hapmap]
rs2063620	1.00[CHB][hapmap];0.84[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2251618	0.81[MEX][hapmap]
rs6487522	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7964657	0.82[ASN][1000 genomes]
rs7971740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979763	0.94[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:26113400-26128800	Weak transcription	HSMM	muscle
3	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:26114200-26125600	Weak transcription	HMEC	breast
6	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
7	chr12:26117000-26126200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
9	chr12:26117400-26126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
11	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:26120000-26125000	Enhancers	Brain Anterior Caudate	brain
14	chr12:26120000-26127400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:26120600-26125000	Enhancers	Ovary	ovary
16	chr12:26120600-26125000	Enhancers	Psoas Muscle	Psoas
17	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:26121200-26126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:26121200-26129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:26121800-26125000	Enhancers	Right Atrium	heart
21	chr12:26122000-26125000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:26122200-26125000	Enhancers	NH-A	brain
23	chr12:26122200-26126200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:26122400-26126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:26122400-26128200	Enhancers	Osteobl	bone
26	chr12:26122600-26126800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:26122600-26127200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:26122800-26125200	Enhancers	Aorta	Aorta
29	chr12:26123200-26127000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:26123400-26125000	Enhancers	Adipose Nuclei	Adipose
31	chr12:26123400-26125000	Enhancers	Fetal Muscle Leg	muscle
32	chr12:26123400-26129400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:26123600-26125000	Enhancers	Left Ventricle	heart
34	chr12:26123600-26125000	Enhancers	Pancreas	Pancrea
35	chr12:26123600-26125200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:26123800-26125000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:26123800-26128800	Weak transcription	Spleen	Spleen
38	chr12:26123800-26129000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:26123800-26129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:26123800-26134200	Weak transcription	Gastric	stomach
42	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:26124000-26125000	Enhancers	Fetal Stomach	stomach
44	chr12:26124000-26125600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:26124000-26126200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:26124200-26126400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:26124200-26129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:26124400-26125200	Enhancers	Rectal Smooth Muscle	rectum
49	chr12:26124400-26125800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:26124400-26125800	Weak transcription	Brain Hippocampus Middle	brain

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