Variant report

Variant	rs7756269
Chromosome Location	chr6:131301099-131301100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr6:131301086-131301125	K562	blood:	n/a	n/a

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1006655	0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10782244	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1334689	0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1571911	0.84[AFR][1000 genomes]
rs1571912	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1977578	0.81[EUR][1000 genomes]
rs1999474	0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2039830	0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2105250	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2184408	0.82[AFR][1000 genomes]
rs2327005	0.81[EUR][1000 genomes]
rs3777446	0.83[AMR][1000 genomes]
rs4895898	0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4897475	0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6536	0.81[AFR][1000 genomes]
rs6569709	0.84[AFR][1000 genomes]
rs6920493	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6932317	0.81[EUR][1000 genomes]
rs6938309	0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs761835	0.81[AFR][1000 genomes]
rs7738572	0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7741462	0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7748468	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7761655	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7766004	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7766505	0.83[EUR][1000 genomes]
rs7768048	0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7769310	0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7774832	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9285468	0.84[AFR][1000 genomes]
rs9375786	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9388867	0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9388870	0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9388871	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9402298	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9402304	0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9402305	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9402307	0.81[EUR][1000 genomes]
rs9483192	0.81[YRI][hapmap]
rs9483203	0.81[EUR][1000 genomes]
rs9492764	0.86[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs966825	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs977140	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs998228	0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131253000-131302200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:131288200-131306600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:131291800-131306200	Weak transcription	Fetal Intestine Small	intestine
4	chr6:131292400-131306400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:131292800-131302000	Weak transcription	NHLF	lung
6	chr6:131295400-131301400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:131295600-131301400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:131295600-131301400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:131296400-131302200	Weak transcription	HSMM	muscle
10	chr6:131296800-131302600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:131297600-131302800	Enhancers	Brain Cingulate Gyrus	brain
12	chr6:131298000-131301600	Enhancers	Brain Substantia Nigra	brain
13	chr6:131298000-131302000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:131298000-131302400	Weak transcription	NHDF-Ad	bronchial
15	chr6:131298800-131314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:131299000-131306200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:131299000-131309800	Weak transcription	HepG2	liver
18	chr6:131299200-131301200	Enhancers	K562	blood
19	chr6:131299200-131304600	Enhancers	Fetal Lung	lung
20	chr6:131299400-131301800	Enhancers	Fetal Muscle Leg	muscle
21	chr6:131299400-131303600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:131299800-131302200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:131300000-131301800	Weak transcription	Psoas Muscle	Psoas
24	chr6:131300000-131302400	Weak transcription	Adipose Nuclei	Adipose
25	chr6:131300200-131301200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:131300200-131301200	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:131300200-131301200	Weak transcription	Fetal Kidney	kidney
28	chr6:131300200-131302400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:131300200-131302600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:131300200-131304000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:131300400-131301200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:131300400-131301800	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:131300400-131301800	Weak transcription	Fetal Stomach	stomach
34	chr6:131300400-131301800	Weak transcription	Ovary	ovary
35	chr6:131300400-131302600	Weak transcription	Brain Angular Gyrus	brain
36	chr6:131300400-131302600	Weak transcription	Brain Anterior Caudate	brain
37	chr6:131300400-131312200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:131300400-131314600	Weak transcription	Small Intestine	intestine
39	chr6:131300800-131302000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:131300800-131303800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:131301000-131301200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr6:131301000-131301200	Enhancers	Spleen	Spleen
43	chr6:131301000-131301600	Enhancers	Placenta	Placenta
44	chr6:131301000-131302200	Enhancers	Thymus	Thymus
45	chr6:131301000-131305000	Enhancers	Dnd41	blood

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