Variant report

Variant	rs9380629
Chromosome Location	chr6:36954662-36954663
allele	C/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	MAX	chr6:36953693-36954702	K562	blood:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
2	MAX	chr6:36953700-36954755	SK-N-SH	brain:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
3	CTCF	chr6:36954560-36954710	BJ	skin:	n/a	n/a
4	MAX	chr6:36953617-36954885	A549	lung:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
5	YY1	chr6:36953724-36954719	SK-N-SH	brain:	n/a	chr6:36954360-36954374 chr6:36954040-36954049 chr6:36954018-36954029 chr6:36954012-36954021 chr6:36954187-36954201 chr6:36954365-36954374 chr6:36954234-36954243
6	POLR2A	chr6:36953647-36954746	HepG2	liver:	n/a	n/a
7	MYC	chr6:36953719-36954957	NB4	blood:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
8	MYC	chr6:36954618-36954716	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr6:36953831-36954675	U87	brain:	n/a	n/a
10	POLR2A	chr6:36953625-36954855	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr6:36953629-36954730	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:36953632-36955129	K562	blood:	n/a	n/a
13	POLR2A	chr6:36953652-36954769	HEK293	kidney:	n/a	n/a
14	POLR2A	chr6:36953551-36954899	MCF-7	breast:	n/a	n/a
15	POLR2A	chr6:36953696-36954672	GM12878	blood:	n/a	n/a
16	SIN3A	chr6:36952572-36954896	H1-hESC	embryonic stem cell:	n/a	chr6:36954205-36954218 chr6:36954129-36954142
17	RFX5	chr6:36953782-36954712	Hela-S3	cervix:	n/a	n/a
18	MYC	chr6:36953758-36955211	K562	blood:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
19	EP300	chr6:36954522-36954961	GM12878	blood:	n/a	n/a
20	MYBL2	chr6:36953571-36954858	HepG2	liver:	n/a	n/a
21	RCOR1	chr6:36953749-36954718	K562	blood:	n/a	n/a
22	HDAC2	chr6:36953632-36954681	MCF-7	breast:	n/a	n/a
23	POLR2A	chr6:36953540-36954792	GM12878	blood:	n/a	n/a
24	MAX	chr6:36953690-36954786	A549	lung:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
25	RUNX3	chr6:36953649-36954738	GM12878	blood:	n/a	n/a
26	ZC3H11A	chr6:36953963-36954933	K562	blood:	n/a	n/a
27	MAZ	chr6:36953694-36954673	GM12878	blood:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
28	MTA3	chr6:36954239-36954755	GM12878	blood:	n/a	n/a
29	BHLHE40	chr6:36953594-36955050	HepG2	liver:	n/a	chr6:36954127-36954143 chr6:36953970-36953991 chr6:36953977-36953986 chr6:36953976-36953985 chr6:36954542-36954558 chr6:36954191-36954207 chr6:36953974-36953987 chr6:36953976-36953985 chr6:36953975-36953984
30	POLR2A	chr6:36953689-36955055	GM12891	blood:	n/a	n/a
31	POLR2A	chr6:36953571-36954915	ProgFib	skin:	n/a	n/a
32	POLR2A	chr6:36953635-36954664	K562	blood:	n/a	n/a
33	POLR2A	chr6:36953521-36955032	PFSK-1	brain:	n/a	n/a
34	MAX	chr6:36953708-36954793	SK-N-SH	brain:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
35	MAX	chr6:36953666-36954794	Hela-S3	cervix:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
36	POLR2A	chr6:36953573-36954717	GM18505	blood:	n/a	n/a
37	TBL1XR1	chr6:36953650-36955229	K562	blood:	n/a	n/a
38	IRF1	chr6:36953738-36954843	K562	blood:	n/a	chr6:36953986-36954000 chr6:36954233-36954247 chr6:36954011-36954025
39	TAF1	chr6:36953519-36954725	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr6:36953544-36955019	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr6:36953654-36954955	GM12878	blood:	n/a	n/a
42	POLR2A	chr6:36953426-36955258	K562	blood:	n/a	n/a
43	POLR2A	chr6:36953575-36954756	HL-60	blood:	n/a	n/a
44	MTA3	chr6:36954216-36954765	GM12878	blood:	n/a	n/a
45	MYC	chr6:36954528-36954716	K562	blood:	n/a	n/a
46	ELK1	chr6:36953727-36954943	K562	blood:	n/a	n/a
47	RELA	chr6:36953729-36954679	GM19099	blood:	n/a	n/a
48	POLR2A	chr6:36953491-36954685	MCF-7	breast:	n/a	n/a
49	TAF1	chr6:36953670-36954676	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr6:36953681-36954729	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36930754..36936310-chr6:36950773..36956274,7	MCF-7	breast:
2	chr6:36952074..36956895-chr6:36967839..36978010,11	MCF-7	breast:
3	chr6:36953981..36954715-chr9:94185943..94186578,2	Hela-S3	cervix:
4	chr19:55918204..55919099-chr6:36954269..36955029,2	Hela-S3	cervix:
5	chr6:36852278..36855515-chr6:36952430..36957026,4	MCF-7	breast:
6	chr6:36852138..36856054-chr6:36953606..36956862,5	K562	blood:
7	chr6:36889896..36892689-chr6:36954303..36956712,2	MCF-7	breast:
8	chr6:36724390..36726745-chr6:36953555..36956553,2	K562	blood:
9	chr6:36929829..36933522-chr6:36953197..36956380,5	MCF-7	breast:
10	chr6:36936791..36939065-chr6:36954271..36955828,2	MCF-7	breast:
11	chr6:36934908..36939247-chr6:36952489..36955593,6	MCF-7	breast:
12	chr6:36952431..36954730-chr6:36980411..36983158,3	MCF-7	breast:
13	chr6:36954231..36957100-chr6:36969352..36972549,3	K562	blood:
14	chr6:36838369..36843263-chr6:36951921..36955568,5	MCF-7	breast:
15	chr6:36954227..36956971-chr6:36992385..36994779,2	K562	blood:
16	chr6:36953605..36955180-chr6:37399250..37401093,2	K562	blood:

Variant related genes	Relation type
MTCH1	TF binding region
ENSG00000164530	Chromatin interaction
ENSG00000165030	Chromatin interaction
ENSG00000137200	Chromatin interaction
ENSG00000198663	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000137409	Chromatin interaction
ENSG00000137168	Chromatin interaction
ENSG00000124772	Chromatin interaction
ENSG00000146192	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11751297	0.80[AMR][1000 genomes]
rs16868759	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3798475	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3798477	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6930271	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs726819	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv5263	chr6:36941625-36972109	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv602952	chr6:36951210-36978745	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv19906	chr6:36951876-36955062	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
8	esv3404117	chr6:36952499-36955347	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36952200-36955200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:36952200-36955200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:36952400-36954800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:36952400-36954800	Active TSS	A549	lung
5	chr6:36952400-36955000	Active TSS	Ovary	ovary
6	chr6:36952400-36955200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:36952600-36954800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr6:36952600-36954800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:36952600-36954800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:36952600-36954800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:36952600-36954800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:36952600-36954800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:36952600-36954800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:36952600-36954800	Active TSS	Aorta	Aorta
15	chr6:36952600-36954800	Active TSS	Rectal Smooth Muscle	rectum
16	chr6:36952600-36954800	Active TSS	GM12878-XiMat	blood
17	chr6:36952600-36954800	Active TSS	NHDF-Ad	bronchial
18	chr6:36952600-36955000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:36952600-36955000	Active TSS	Lung	lung
20	chr6:36952600-36955400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:36952600-36955400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr6:36952600-36955400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr6:36952600-36955400	Active TSS	Fetal Muscle Trunk	muscle
24	chr6:36952800-36954800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:36952800-36954800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:36952800-36954800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:36952800-36954800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr6:36952800-36954800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:36952800-36954800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr6:36952800-36954800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:36952800-36954800	Active TSS	Placenta Amnion	Placenta Amnion
32	chr6:36952800-36954800	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr6:36952800-36954800	Active TSS	HSMM	muscle
34	chr6:36952800-36955000	Active TSS	Gastric	stomach
35	chr6:36952800-36955000	Active TSS	Psoas Muscle	Psoas
36	chr6:36952800-36955000	Active TSS	Right Ventricle	heart
37	chr6:36952800-36955000	Active TSS	Stomach Mucosa	stomach
38	chr6:36952800-36955200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr6:36953000-36954800	Active TSS	Brain Substantia Nigra	brain
40	chr6:36953000-36954800	Active TSS	Colon Smooth Muscle	Colon
41	chr6:36953000-36955000	Active TSS	Left Ventricle	heart
42	chr6:36953000-36955000	Active TSS	Pancreas	Pancrea
43	chr6:36953200-36954800	Active TSS	Brain Anterior Caudate	brain
44	chr6:36953200-36954800	Active TSS	Fetal Intestine Large	intestine
45	chr6:36953400-36954800	Active TSS	Spleen	Spleen
46	chr6:36953400-36955000	Active TSS	Fetal Brain Female	brain
47	chr6:36953800-36954800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:36954200-36955000	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr6:36954400-36954800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:36954400-36954800	Flanking Active TSS	Primary B cells from peripheral blood	blood

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