Variant report

Variant	rs6911338
Chromosome Location	chr6:147233659-147233660
allele	G/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	JUN	chr6:147232993-147238813	K562	blood:	n/a	chr6:147236129-147236136 chr6:147237375-147237386 chr6:147236127-147236137 chr6:147236127-147236137 chr6:147235716-147235724 chr6:147235716-147235724 chr6:147238505-147238513 chr6:147237895-147237909 chr6:147235717-147235724 chr6:147236127-147236136 chr6:147236126-147236138 chr6:147236128-147236137
2	POLR2A	chr6:147233623-147233710	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:147232346..147237544-chr6:147521050..147527983,13	K562	blood:
2	chr6:147233328..147236267-chr6:147495924..147498076,2	K562	blood:
3	chr6:147229677..147239083-chr6:147521152..147530893,22	K562	blood:
4	chr6:147231935..147237791-chr6:147522176..147527834,11	MCF-7	breast:
5	chr6:147232975..147234547-chr6:147542627..147545100,2	K562	blood:
6	chr6:147233166..147237387-chr6:147522685..147525854,6	MCF-7	breast:
7	chr6:147232830..147236608-chr6:147480889..147484110,6	K562	blood:

Variant related genes	Relation type
STXBP5-AS1	TF binding region
ENSG00000164506	Chromatin interaction
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17076400	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17076613	1.00[AMR][1000 genomes]
rs17076616	1.00[AMR][1000 genomes]
rs17076618	1.00[AMR][1000 genomes]
rs17076629	1.00[AMR][1000 genomes]
rs17076639	1.00[AMR][1000 genomes]
rs4565327	1.00[AMR][1000 genomes]
rs4573104	1.00[AMR][1000 genomes]
rs62434839	0.86[AFR][1000 genomes]
rs6900567	1.00[AMR][1000 genomes]
rs73580236	0.89[AFR][1000 genomes]
rs73582223	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582235	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582237	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582240	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582241	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582243	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7774882	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs927670	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs927671	0.89[AFR][1000 genomes];1.00[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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2760996	chr6:147229457-147269633	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147226800-147233800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:147227000-147235000	Weak transcription	Fetal Lung	lung
3	chr6:147227000-147235000	Weak transcription	Right Atrium	heart
4	chr6:147227800-147233800	Weak transcription	HMEC	breast
5	chr6:147228000-147234400	Weak transcription	Fetal Kidney	kidney
6	chr6:147229200-147234000	Enhancers	K562	blood
7	chr6:147231000-147234600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:147231600-147233800	Enhancers	NHDF-Ad	bronchial
9	chr6:147231600-147234600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:147231600-147235000	Weak transcription	Gastric	stomach
11	chr6:147231800-147235000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:147232000-147233800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:147232000-147233800	Weak transcription	HSMMtube	muscle
14	chr6:147232000-147234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:147232000-147235000	Weak transcription	Ovary	ovary
16	chr6:147232000-147235200	Weak transcription	Psoas Muscle	Psoas
17	chr6:147232200-147234000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:147232400-147234000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:147232400-147234000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:147232400-147234200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:147232800-147233800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:147232800-147234000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:147232800-147235000	Enhancers	Hela-S3	cervix
24	chr6:147233000-147234000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:147233000-147234000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:147233000-147234000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:147233000-147237400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:147233200-147234000	Enhancers	A549	lung
29	chr6:147233400-147234600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:147233400-147235400	Enhancers	NHLF	lung
31	chr6:147233600-147234000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr6:147233600-147234200	Enhancers	Osteobl	bone
33	chr6:147233600-147234400	Enhancers	HUVEC	blood vessel
34	chr6:147233600-147234600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:147233600-147235000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:147233600-147235000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:147233600-147235000	Enhancers	HSMM	muscle

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