Variant report

Variant	rs1571912
Chromosome Location	chr6:131302139-131302140
allele	A/G
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	KAP1	chr6:131301771-131302158	HEK293	kidney:	n/a	n/a
2	MAFK	chr6:131301865-131302167	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:131301765-131302222	SK-N-MC	brain:	n/a	n/a
4	MAFK	chr6:131301846-131302156	HepG2	liver:	n/a	n/a
5	MAFF	chr6:131301802-131302208	K562	blood:	n/a	n/a
6	MAFK	chr6:131301821-131302191	K562	blood:	n/a	n/a
7	TCF7L2	chr6:131301976-131302422	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131301483..131303877-chr6:131310985..131313836,2	MCF-7	breast:

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1006655	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10782244	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1334689	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1571911	0.81[AFR][1000 genomes]
rs1999474	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2039830	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2105250	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3777446	0.81[AMR][1000 genomes]
rs4895898	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4897475	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs6569709	0.81[AFR][1000 genomes]
rs6920493	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6938309	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7738572	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7741462	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7748468	0.83[AMR][1000 genomes]
rs7756269	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7761655	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7766004	0.88[AMR][1000 genomes]
rs7768048	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7769310	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7774832	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9285468	0.81[AFR][1000 genomes]
rs9375786	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9388867	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9388870	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9388871	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9402298	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9402304	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9402305	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9492764	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs966825	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs977140	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs998228	0.91[AFR][1000 genomes];0.87[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:44 , 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	chr6:131296400-131302200	Weak transcription	HSMM	muscle
6	chr6:131296800-131302600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:131297600-131302800	Enhancers	Brain Cingulate Gyrus	brain
8	chr6:131298000-131302400	Weak transcription	NHDF-Ad	bronchial
9	chr6:131298800-131314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:131299000-131306200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:131299000-131309800	Weak transcription	HepG2	liver
12	chr6:131299200-131304600	Enhancers	Fetal Lung	lung
13	chr6:131299400-131303600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:131299800-131302200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:131300000-131302400	Weak transcription	Adipose Nuclei	Adipose
16	chr6:131300200-131302400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:131300200-131302600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:131300200-131304000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:131300400-131302600	Weak transcription	Brain Angular Gyrus	brain
20	chr6:131300400-131302600	Weak transcription	Brain Anterior Caudate	brain
21	chr6:131300400-131312200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:131300400-131314600	Weak transcription	Small Intestine	intestine
23	chr6:131300800-131303800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:131301000-131302200	Enhancers	Thymus	Thymus
25	chr6:131301000-131305000	Enhancers	Dnd41	blood
26	chr6:131301200-131302400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr6:131301200-131304600	Enhancers	Fetal Kidney	kidney
28	chr6:131301400-131302200	Active TSS	K562	blood
29	chr6:131301400-131302400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr6:131301400-131302800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr6:131301400-131303000	Enhancers	Primary T cells from cord blood	blood
32	chr6:131301400-131303400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:131301600-131302200	Enhancers	Primary B cells from peripheral blood	blood
34	chr6:131301600-131302600	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:131301600-131302600	Weak transcription	Brain Substantia Nigra	brain
36	chr6:131301800-131302600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:131301800-131302600	Enhancers	Psoas Muscle	Psoas
38	chr6:131301800-131305000	Enhancers	Colon Smooth Muscle	Colon
39	chr6:131301800-131306200	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:131302000-131302200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr6:131302000-131302400	Weak transcription	Fetal Stomach	stomach
42	chr6:131302000-131302800	Enhancers	NHLF	lung
43	chr6:131302000-131303400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr6:131302000-131304000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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