Variant report

Variant	rs73433149
Chromosome Location	chr6:30594202-30594203
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30594015-30595207	K562	blood:	n/a	n/a
2	POLR2A	chr6:30593969-30594981	PANC-1	pancreas:	n/a	n/a
3	MTA3	chr6:30594134-30595237	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:30593561-30595349	K562	blood:	n/a	n/a
5	POLR2A	chr6:30594195-30595206	GM12878	blood:	n/a	n/a
6	MBD4	chr6:30594064-30595056	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:30594125-30595079	ECC-1	luminal epithelium:	n/a	n/a
8	REST	chr6:30593978-30595485	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr6:30594140-30595048	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:30593812-30595222	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr6:30594143-30594976	GM12891	blood:	n/a	n/a
12	TCF12	chr6:30594065-30594988	A549	lung:	n/a	n/a
13	POLR2A	chr6:30594028-30595130	GM12892	blood:	n/a	n/a
14	PML	chr6:30594100-30595138	GM12878	blood:	n/a	chr6:30594807-30594815
15	MAX	chr6:30594184-30595050	MCF-7	breast:	n/a	chr6:30594436-30594445
16	ELF1	chr6:30594143-30595194	MCF-7	breast:	n/a	chr6:30594611-30594624
17	POLR2A	chr6:30593658-30595747	SK-N-MC	brain:	n/a	n/a
18	CREB1	chr6:30594179-30595043	A549	lung:	n/a	n/a
19	CTCF	chr6:30594120-30594270	AG10803	skin:	n/a	n/a
20	NFATC1	chr6:30594158-30595157	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:30594200-30594988	SK-N-SH	brain:	n/a	n/a
22	NFATC1	chr6:30594188-30594930	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:30594110-30595249	GM12892	blood:	n/a	n/a
24	POLR2A	chr6:30594017-30595075	PFSK-1	brain:	n/a	n/a
25	MXI1	chr6:30593883-30595971	SK-N-SH	brain:	n/a	chr6:30594436-30594451
26	POLR2A	chr6:30594170-30595156	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr6:30594108-30594981	GM12892	blood:	n/a	n/a
28	POLR2A	chr6:30594122-30595091	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr6:30594131-30595222	GM12891	blood:	n/a	n/a
30	POLR2A	chr6:30593932-30595151	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr6:30594201-30594848	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:30593826-30595293	K562	blood:	n/a	n/a
33	CTCF	chr6:30594200-30594350	WI-38	lung:	n/a	n/a
34	BCLAF1	chr6:30594149-30594828	GM12878	blood:	n/a	chr6:30594615-30594624
35	POLR2A	chr6:30594167-30594881	GM12891	blood:	n/a	n/a
36	MXI1	chr6:30593924-30595198	IMR90	lung:	n/a	chr6:30594436-30594451
37	SP1	chr6:30593747-30594224	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr6:30594153-30595199	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:30594188-30594964	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr6:30594190-30595159	HL-60	blood:	n/a	n/a
41	POLR2A	chr6:30594186-30595159	GM12878	blood:	n/a	n/a
42	CTCF	chr6:30594200-30594350	HL-60	blood:	n/a	n/a
43	HEY1	chr6:30593952-30594964	HepG2	liver:	n/a	n/a
44	GABPA	chr6:30594085-30595220	MCF-7	breast:	n/a	n/a
45	POLR2A	chr6:30594112-30594960	HCT-116	colon:	n/a	n/a
46	POLR2A	chr6:30593881-30595170	K562	blood:	n/a	n/a
47	GABPA	chr6:30594174-30595206	SK-N-SH	brain:	n/a	n/a
48	NFIC	chr6:30594193-30595007	GM12878	blood:	n/a	n/a
49	CTCF	chr6:30594060-30594210	GM12866	blood:	n/a	n/a
50	POLR2A	chr6:30594103-30594948	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30594186-30594236	CMK	blood:	n/a
2	chr6:30594186-30594236	HCF	heart:	n/a
3	chr6:30594186-30594236	SAEC	small airway:	n/a
4	chr6:30594186-30594236	PFSK-1	brain:	n/a
5	chr6:30594186-30594236	NHBE	bronchial:	n/a
6	chr6:30594186-30594236	GM12892	blood:	n/a
7	chr6:30594186-30594236	NH-A	brain:	n/a
8	chr6:30594186-30594236	Hela-S3	cervix:	n/a
9	chr6:30594186-30594236	AG09319	gingival:	n/a
10	chr6:30594186-30594236	HCM	heart:	n/a
11	chr6:30594186-30594236	GM12878	blood:	n/a
12	chr6:30594186-30594236	AoSMC	blood vessel:	n/a
13	chr6:30594186-30594236	MCF10A-Er-Src	breast:	n/a
14	chr6:30594186-30594236	GM06990	blood:	n/a
15	chr6:30594186-30594236	HUVEC	blood vessel:	n/a
16	chr6:30594186-30594236	AG09309	skin:	n/a
17	chr6:30594186-30594236	SK-N-SH	brain:	n/a
18	chr6:30594186-30594236	U87	brain:	n/a
19	chr6:30594186-30594236	RPTEC	kidney:	n/a
20	chr6:30594186-30594236	NT2-D1	testis:	n/a
21	chr6:30594186-30594236	BE2_C	brain:	n/a
22	chr6:30594186-30594236	Caco-2	colon:	n/a
23	chr6:30594186-30594236	A549	lung:	n/a
24	chr6:30594186-30594236	HNPCEpiC	eye:	n/a
25	chr6:30594186-30594236	BJ	skin:	n/a
26	chr6:30594186-30594236	HCPEpiC	choroid plexus:	n/a
27	chr6:30594186-30594236	GM19239	blood:	n/a
28	chr6:30594186-30594236	NHDF-neo	bronchial:	n/a
29	chr6:30594186-30594236	HEEpiC	esophagus:	n/a
30	chr6:30594186-30594236	Jurkat	blood:	n/a
31	chr6:30594186-30594236	NB4	blood:	n/a
32	chr6:30594186-30594236	HRCEpiC	kidney:	n/a
33	chr6:30594186-30594236	MCF-7	breast:	n/a
34	chr6:30594186-30594236	HL-60	blood:	n/a
35	chr6:30594186-30594236	AG10803	skin:	n/a
36	chr6:30594186-30594236	AG04450	lung:	fetal
37	chr6:30594186-30594236	HepG2	liver:	n/a
38	chr6:30594186-30594236	HRE	kidney:	n/a
39	chr6:30594186-30594236	SK-N-MC	brain:	n/a
40	chr6:30594186-30594236	HIPEpiC	eye:	n/a
41	chr6:30594186-30594236	AG04449	skin:	fetal
42	chr6:30594186-30594236	H1-hESC	embryonic stem cell:	embryo
43	chr6:30594186-30594236	LNCaP	prostate:	n/a
44	chr6:30594186-30594236	HAEpiC	amniotic membrane:	n/a
45	chr6:30594186-30594236	IMR90	lung:	fetal
46	chr6:30594186-30594236	HCT-116	colon:	n/a
47	chr6:30594186-30594236	ECC-1	luminal epithelium:	n/a
48	chr6:30594186-30594236	ovcar-3	ovarian:	n/a
49	chr6:30594186-30594236	Hepatocyte	liver:	n/a
50	chr6:30594186-30594236	PANC-1	pancreas:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30592745..30596299-chr6:30612825..30617200,8	MCF-7	breast:
2	chr6:30591945..30594693-chr6:30703860..30706448,2	K562	blood:
3	chr6:30593365..30595936-chr6:30888888..30891859,2	K562	blood:
4	chr6:30592689..30594300-chr6:30694782..30696662,2	MCF-7	breast:
5	chr6:30593119..30595589-chr6:30619964..30621770,2	MCF-7	breast:
6	chr6:30523568..30525736-chr6:30593278..30596077,2	MCF-7	breast:
7	chr6:30591157..30598732-chr6:30607879..30619621,21	K562	blood:
8	chr6:30590782..30598373-chr6:30685661..30690473,13	MCF-7	breast:
9	chr6:30594160..30596394-chr6:30709286..30711112,2	MCF-7	breast:
10	chr6:30591444..30595401-chr6:30685466..30689259,5	K562	blood:

No data

Variant related genes	Relation type
ATAT1	TF binding region
ATAT1	CpG island
ENSG00000196230	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000201988	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000204590	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17189357	1.00[ASN][1000 genomes]
rs28986467	1.00[ASN][1000 genomes]
rs57529939	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61059475	1.00[ASN][1000 genomes]
rs61414974	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6927597	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6927603	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6931296	1.00[ASN][1000 genomes]
rs73422044	1.00[ASN][1000 genomes]
rs73422050	1.00[ASN][1000 genomes]
rs73433105	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433127	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433141	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433151	0.93[AFR][1000 genomes]
rs7747973	1.00[ASN][1000 genomes]
rs7751766	1.00[EUR][1000 genomes]
rs7757145	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 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	chr6:30586400-30594600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30586600-30594400	Weak transcription	Right Atrium	heart
3	chr6:30586600-30594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:30586800-30594400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:30587000-30594400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:30593200-30594600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:30593600-30594400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:30593600-30594400	Weak transcription	Ovary	ovary
9	chr6:30593600-30613800	Weak transcription	Hela-S3	cervix
10	chr6:30593800-30594400	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr6:30593800-30594400	Weak transcription	Aorta	Aorta
12	chr6:30593800-30594400	Weak transcription	GM12878-XiMat	blood
13	chr6:30593800-30594400	Weak transcription	NH-A	brain
14	chr6:30594000-30594400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:30594000-30594400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:30594000-30594400	Genic enhancers	Liver	Liver
17	chr6:30594000-30594400	Weak transcription	Lung	lung
18	chr6:30594000-30594400	Weak transcription	HMEC	breast
19	chr6:30594000-30594600	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr6:30594000-30595200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr6:30594000-30595200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr6:30594000-30595600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:30594200-30594400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:30594200-30594400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:30594200-30594400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:30594200-30594400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:30594200-30594400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:30594200-30594400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr6:30594200-30594400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
30	chr6:30594200-30594400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:30594200-30594400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr6:30594200-30594400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
33	chr6:30594200-30594400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:30594200-30594400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:30594200-30594400	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:30594200-30594400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:30594200-30594400	Genic enhancers	Primary T cells from cord blood	blood
38	chr6:30594200-30594400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
39	chr6:30594200-30594400	Active TSS	Primary hematopoietic stem cells	blood
40	chr6:30594200-30594400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
41	chr6:30594200-30594400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
42	chr6:30594200-30594400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:30594200-30594400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
44	chr6:30594200-30594400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
45	chr6:30594200-30594400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:30594200-30594400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:30594200-30594400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:30594200-30594400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:30594200-30594400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:30594200-30594400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood

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