Variant report

Variant	rs61252315
Chromosome Location	chr6:150218909-150218910
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	POLR2A	chr6:150218296-150219081	U87	brain:	n/a	n/a
2	POLR2A	chr6:150218321-150219129	U87	brain:	n/a	n/a
3	CEBPB	chr6:150218518-150218910	IMR90	lung:	n/a	n/a
4	SMC3	chr6:150218451-150218928	Hela-S3	cervix:	n/a	n/a
5	JUND	chr6:150218297-150219030	SK-N-SH	brain:	n/a	chr6:150218635-150218644
6	FOSL2	chr6:150218400-150218919	A549	lung:	n/a	chr6:150218635-150218644
7	POLR2A	chr6:150218357-150218918	U87	brain:	n/a	n/a
8	RCOR1	chr6:150218360-150218950	Hela-S3	cervix:	n/a	n/a
9	MAX	chr6:150218395-150218951	A549	lung:	n/a	chr6:150218634-150218643
10	POLR2A	chr6:150218160-150218918	U87	brain:	n/a	n/a
11	FOSL2	chr6:150218368-150218963	SK-N-SH	brain:	n/a	chr6:150218635-150218644
12	POLR2A	chr6:150218559-150218937	MCF10A-Er-Src	breast:	n/a	n/a
13	NFIC	chr6:150218272-150219018	SK-N-SH	brain:	n/a	n/a
14	CEBPB	chr6:150218470-150218930	Hela-S3	cervix:	n/a	n/a
15	MAX	chr6:150218477-150218941	SK-N-SH	brain:	n/a	chr6:150218634-150218643

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150217021..150219534-chr6:150242538..150245487,2	MCF-7	breast:
2	chr6:150183832..150186232-chr6:150215270..150224001,9	MCF-7	breast:

Variant related genes	Relation type
RAET1E	TF binding region
ENSG00000203722	Chromatin interaction
ENSG00000120256	Chromatin interaction
ENSG00000268592	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56865115	1.00[AFR][1000 genomes]
rs57292884	1.00[AFR][1000 genomes]
rs73608693	0.81[AFR][1000 genomes]
rs73612427	0.91[AFR][1000 genomes]
rs73612437	1.00[AFR][1000 genomes]
rs73612497	0.81[AFR][1000 genomes]
rs73612499	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv886765	chr6:150198491-150288722	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1817805	chr6:150209592-150268708	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150209600-150222200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:150215800-150219200	Enhancers	Stomach Mucosa	stomach
3	chr6:150216000-150219000	Enhancers	Placenta	Placenta
4	chr6:150216000-150219000	Enhancers	Right Atrium	heart
5	chr6:150216000-150219200	Enhancers	Left Ventricle	heart
6	chr6:150216000-150219400	Enhancers	Lung	lung
7	chr6:150216000-150219400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr6:150216000-150219400	Flanking Active TSS	Hela-S3	cervix
9	chr6:150216000-150222600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:150216200-150219400	Enhancers	Fetal Intestine Large	intestine
11	chr6:150216200-150219400	Enhancers	Fetal Muscle Trunk	muscle
12	chr6:150216200-150219600	Enhancers	Fetal Muscle Leg	muscle
13	chr6:150216400-150219000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr6:150216600-150219000	Flanking Active TSS	NHEK	skin
15	chr6:150216600-150219200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:150216600-150221800	Weak transcription	Pancreas	Pancrea
17	chr6:150216600-150225000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:150216800-150219000	Enhancers	Brain Cingulate Gyrus	brain
19	chr6:150217000-150219000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:150217200-150219000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:150217800-150219000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:150217800-150219000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr6:150217800-150219200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr6:150217800-150221600	Weak transcription	Gastric	stomach
25	chr6:150218000-150219000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:150218000-150219000	Active TSS	Rectal Smooth Muscle	rectum
27	chr6:150218000-150219000	Flanking Active TSS	A549	lung
28	chr6:150218000-150219000	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr6:150218200-150219000	Enhancers	Aorta	Aorta
30	chr6:150218200-150219000	Active TSS	Brain Substantia Nigra	brain
31	chr6:150218200-150219000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr6:150218200-150219000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr6:150218200-150219000	Active TSS	HSMMtube	muscle
34	chr6:150218400-150219000	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr6:150218600-150219000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:150218600-150219000	Active TSS	Colon Smooth Muscle	Colon
37	chr6:150218600-150219000	Enhancers	Fetal Lung	lung
38	chr6:150218600-150219000	Weak transcription	Psoas Muscle	Psoas
39	chr6:150218600-150219200	Enhancers	Spleen	Spleen
40	chr6:150218600-150219600	Enhancers	NHDF-Ad	bronchial
41	chr6:150218600-150221600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:150218600-150222600	Enhancers	HMEC	breast
43	chr6:150218800-150219000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:150218800-150219000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:150218800-150219000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr6:150218800-150219000	Enhancers	Liver	Liver
47	chr6:150218800-150219000	Flanking Active TSS	Colonic Mucosa	Colon
48	chr6:150218800-150219000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr6:150218800-150219000	Flanking Active TSS	HSMM	muscle
50	chr6:150218800-150219000	Flanking Active TSS	NHLF	lung

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