Variant report

Variant	rs561406215
Chromosome Location	chr6:33589146-33589147
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	POLR2A	chr6:33587972-33589359	PANC-1	pancreas:	n/a	n/a
2	NFIC	chr6:33588009-33589147	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr6:33588547-33589747	GM18526	blood:	n/a	n/a
4	POLR2A	chr6:33587950-33590165	Hela-S3	cervix:	n/a	n/a
5	E2F6	chr6:33588573-33589298	A549	lung:	n/a	chr6:33588697-33588711 chr6:33588700-33588714 chr6:33588764-33588774 chr6:33589058-33589067 chr6:33588983-33588994
6	MAX	chr6:33588051-33590088	ECC-1	luminal epithelium:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
7	TAF1	chr6:33588651-33589329	ECC-1	luminal epithelium:	n/a	n/a
8	TFAP2A	chr6:33587780-33589508	Hela-S3	cervix:	n/a	chr6:33587936-33587950 chr6:33587938-33587948 chr6:33587936-33587950 chr6:33587938-33587948 chr6:33588821-33588836 chr6:33587938-33587948 chr6:33588733-33588744 chr6:33587938-33587948
9	POLR2A	chr6:33587666-33589182	U87	brain:	n/a	n/a
10	MAX	chr6:33588778-33589423	K562	blood:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
11	POLR2A	chr6:33587996-33590038	MCF10A-Er-Src	breast:	n/a	n/a
12	ELF1	chr6:33588498-33590171	GM12878	blood:	n/a	chr6:33588664-33588676 chr6:33589194-33589206
13	MAX	chr6:33588477-33589985	MCF-7	breast:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
14	POLR2A	chr6:33588532-33589659	HCT-116	colon:	n/a	n/a
15	MYC	chr6:33588512-33589286	A549	lung:	n/a	chr6:33589001-33589011
16	POLR2A	chr6:33588778-33589324	A549	lung:	n/a	n/a
17	RUNX3	chr6:33588410-33589246	GM12878	blood:	n/a	n/a
18	SIN3AK20	chr6:33588392-33589771	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr6:33588634-33590013	MCF-7	breast:	n/a	n/a
20	E2F6	chr6:33588519-33589438	K562	blood:	n/a	chr6:33588697-33588711 chr6:33588700-33588714 chr6:33588764-33588774 chr6:33589058-33589067 chr6:33588983-33588994
21	MAX	chr6:33587836-33590117	Hela-S3	cervix:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
22	POLR2A	chr6:33588613-33589972	GM12878	blood:	n/a	n/a
23	HDAC2	chr6:33588478-33589181	K562	blood:	n/a	chr6:33588486-33588500 chr6:33588488-33588502
24	POU2F2	chr6:33588805-33589541	GM12878	blood:	n/a	chr6:33589075-33589084 chr6:33589242-33589254 chr6:33589073-33589086 chr6:33589071-33589089 chr6:33589074-33589084 chr6:33589076-33589083 chr6:33589073-33589087
25	MAX	chr6:33587927-33589931	A549	lung:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
26	MAX	chr6:33588767-33589162	SK-N-SH	brain:	n/a	chr6:33589001-33589011
27	POLR2A	chr6:33588478-33589224	K562	blood:	n/a	n/a
28	POLR2A	chr6:33588499-33589833	GM19193	blood:	n/a	n/a
29	E2F6	chr6:33588159-33589967	K562	blood:	n/a	chr6:33589769-33589778 chr6:33588697-33588711 chr6:33588700-33588714 chr6:33589542-33589552 chr6:33588764-33588774 chr6:33589545-33589555 chr6:33589058-33589067 chr6:33588412-33588429 chr6:33588983-33588994
30	SIN3A	chr6:33587857-33590046	H1-hESC	embryonic stem cell:	n/a	chr6:33587958-33587971 chr6:33589849-33589857 chr6:33588670-33588681 chr6:33587966-33587974
31	MXI1	chr6:33588622-33589842	GM12878	blood:	n/a	chr6:33589775-33589784
32	POLR2A	chr6:33588580-33589714	GM10847	blood:	n/a	n/a
33	POLR2A	chr6:33588482-33589244	NB4	blood:	n/a	n/a
34	POLR2A	chr6:33587672-33589176	U87	brain:	n/a	n/a
35	MAX	chr6:33587775-33590168	HCT-116	colon:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
36	POLR2A	chr6:33588364-33589829	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr6:33588571-33589338	A549	lung:	n/a	n/a
38	CREB1	chr6:33588850-33589288	A549	lung:	n/a	n/a
39	MTA3	chr6:33589129-33590237	GM12878	blood:	n/a	n/a
40	POLR2A	chr6:33587836-33589724	GM18505	blood:	n/a	n/a
41	MAZ	chr6:33587852-33590071	Hela-S3	cervix:	n/a	chr6:33589328-33589337 chr6:33589347-33589356
42	MAX	chr6:33588700-33589503	GM12878	blood:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
43	POLR2A	chr6:33587939-33589850	GM15510	blood:	n/a	n/a
44	HEY1	chr6:33588843-33589308	HepG2	liver:	n/a	n/a
45	POLR2A	chr6:33587236-33590289	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr6:33588771-33589882	MCF-7	breast:	n/a	n/a
47	YY1	chr6:33588494-33589854	K562	blood:	n/a	chr6:33588680-33588694 chr6:33589547-33589556 chr6:33588701-33588715 chr6:33589240-33589251 chr6:33589237-33589251
48	POLR2A	chr6:33588402-33589947	GM12892	blood:	n/a	n/a
49	TBL1XR1	chr6:33588825-33589336	GM12878	blood:	n/a	n/a
50	TFAP2C	chr6:33587771-33589488	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33589131-33589181	HNPCEpiC	eye:	n/a
2	chr6:33589118-33589168	HUVEC	blood vessel:	n/a
3	chr6:33589131-33589181	Jurkat	blood:	n/a
4	chr6:33589118-33589168	U87	brain:	n/a
5	chr6:33589118-33589168	PFSK-1	brain:	n/a
6	chr6:33589131-33589181	HCM	heart:	n/a
7	chr6:33589118-33589168	HRE	kidney:	n/a
8	chr6:33589118-33589168	K562	blood:	n/a
9	chr6:33589131-33589181	HUVEC	blood vessel:	n/a
10	chr6:33589131-33589181	Caco-2	colon:	n/a
11	chr6:33589131-33589181	HepG2	liver:	n/a
12	chr6:33589118-33589168	MCF-7	breast:	n/a
13	chr6:33589131-33589181	SK-N-MC	brain:	n/a
14	chr6:33589118-33589168	SAEC	small airway:	n/a
15	chr6:33589118-33589168	NHDF-neo	bronchial:	n/a
16	chr6:33589118-33589168	LNCaP	prostate:	n/a
17	chr6:33589131-33589181	SKMC	muscle:	n/a
18	chr6:33589118-33589168	HepG2	liver:	n/a
19	chr6:33589118-33589168	Caco-2	colon:	n/a
20	chr6:33589131-33589181	NT2-D1	testis:	n/a
21	chr6:33589118-33589168	RPTEC	kidney:	n/a
22	chr6:33589118-33589168	AG10803	skin:	n/a
23	chr6:33589131-33589181	AG04450	lung:	fetal
24	chr6:33589131-33589181	AG10803	skin:	n/a
25	chr6:33589131-33589181	HL-60	blood:	n/a
26	chr6:33589131-33589181	K562	blood:	n/a
27	chr6:33589131-33589181	HRE	kidney:	n/a
28	chr6:33589131-33589181	NH-A	brain:	n/a
29	chr6:33589131-33589181	U87	brain:	n/a
30	chr6:33589131-33589181	ECC-1	luminal epithelium:	n/a
31	chr6:33589118-33589168	Hepatocyte	liver:	n/a
32	chr6:33589118-33589168	PANC-1	pancreas:	n/a
33	chr6:33589118-33589168	HCT-116	colon:	n/a
34	chr6:33589131-33589181	HMEC	breast:	n/a
35	chr6:33589118-33589168	GM12878	blood:	n/a
36	chr6:33589118-33589168	ProgFib	skin:	n/a
37	chr6:33589118-33589168	HCPEpiC	choroid plexus:	n/a
38	chr6:33589131-33589181	HRCEpiC	kidney:	n/a
39	chr6:33589118-33589168	SK-N-SH_RA	brain:	n/a
40	chr6:33589131-33589181	Hela-S3	cervix:	n/a
41	chr6:33589118-33589168	HEK293	kidney:	embryo
42	chr6:33589131-33589181	MCF10A-Er-Src	breast:	n/a
43	chr6:33589118-33589168	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:33589131-33589181	LNCaP	prostate:	n/a
45	chr6:33589118-33589168	AG09319	gingival:	n/a
46	chr6:33589131-33589181	GM19239	blood:	n/a
47	chr6:33589131-33589181	CMK	blood:	n/a
48	chr6:33589131-33589181	BJ	skin:	n/a
49	chr6:33589118-33589168	NB4	blood:	n/a
50	chr6:33589131-33589181	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr6:33546546..33549178-chr6:33588334..33590241,2	K562	blood:
2	chr6:33588748..33590902-chr6:33677628..33680104,3	K562	blood:
3	chr6:33588748..33590595-chr6:33677611..33680104,2	K562	blood:
4	chr6:13574530..13575381-chr6:33588931..33589769,3	Hela-S3	cervix:
5	chr1:149223926..149224778-chr6:33589055..33589566,2	Hela-S3	cervix:
6	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
7	chr12:53297626..53300477-chr6:33588925..33590822,2	MCF-7	breast:
8	chr6:33550022..33555745-chr6:33586647..33590467,5	MCF-7	breast:
9	chr6:33551460..33554975-chr6:33588078..33592105,4	K562	blood:
10	chr15:73925194..73925924-chr6:33589142..33589802,2	Hela-S3	cervix:
11	chr6:33382580..33384156-chr6:33587956..33590051,2	K562	blood:
12	chr1:155231631..155232403-chr6:33588518..33589463,2	Hela-S3	cervix:
13	chr6:33587667..33592228-chr6:33677016..33679936,5	MCF-7	breast:

Variant related genes	Relation type
ITPR3	TF binding region
ITPR3	CpG island
ENSG00000112511	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000204188	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000030110	Chromatin interaction
ENSG00000137288	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000156642	Chromatin interaction
ENSG00000206737	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
3	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv3321796	chr6:33587999-33590547	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33587600-33590000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:33587600-33590000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr6:33587600-33590200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:33587800-33589200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:33587800-33589200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:33587800-33589200	Active TSS	Brain Hippocampus Middle	brain
7	chr6:33587800-33589200	Active TSS	Psoas Muscle	Psoas
8	chr6:33587800-33589400	Active TSS	Colon Smooth Muscle	Colon
9	chr6:33587800-33589400	Active TSS	Rectal Smooth Muscle	rectum
10	chr6:33587800-33589400	Active TSS	Right Atrium	heart
11	chr6:33587800-33589600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:33587800-33589600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:33587800-33589600	Active TSS	Placenta Amnion	Placenta Amnion
14	chr6:33587800-33589800	Active TSS	Ovary	ovary
15	chr6:33587800-33590000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr6:33587800-33590000	Active TSS	Pancreas	Pancrea
17	chr6:33587800-33590400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr6:33587800-33590400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr6:33587800-33590400	Active TSS	NH-A	brain
20	chr6:33587800-33590600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr6:33588000-33589200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:33588000-33589400	Active TSS	Aorta	Aorta
23	chr6:33588000-33589400	Active TSS	Brain Cingulate Gyrus	brain
24	chr6:33588000-33589400	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr6:33588000-33589400	Active TSS	Spleen	Spleen
26	chr6:33588000-33589400	Active TSS	Dnd41	blood
27	chr6:33588000-33589800	Active TSS	Primary T cells from cord blood	blood
28	chr6:33588000-33589800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:33588000-33589800	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr6:33588000-33589800	Active TSS	Brain Angular Gyrus	brain
31	chr6:33588000-33590000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:33588000-33590000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr6:33588000-33590000	Active TSS	Brain Anterior Caudate	brain
34	chr6:33588000-33590000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr6:33588000-33590000	Active TSS	Fetal Kidney	kidney
36	chr6:33588000-33590000	Active TSS	Fetal Lung	lung
37	chr6:33588000-33590000	Active TSS	NHDF-Ad	bronchial
38	chr6:33588000-33590200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:33588000-33590200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:33588000-33590200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr6:33588000-33590200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:33588000-33590200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:33588000-33590200	Active TSS	Duodenum Mucosa	Duodenum
44	chr6:33588000-33590200	Active TSS	Esophagus	oesophagus
45	chr6:33588000-33590200	Active TSS	A549	lung
46	chr6:33588000-33590200	Active TSS	Hela-S3	cervix
47	chr6:33588000-33590400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr6:33588000-33590400	Active TSS	Gastric	stomach
49	chr6:33588000-33590400	Active TSS	Left Ventricle	heart
50	chr6:33588000-33590400	Active TSS	Sigmoid Colon	Sigmoid Colon

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