Variant report

Variant	rs6922275
Chromosome Location	chr6:33749739-33749740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:33749210-33749980	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXM1	chr6:33748875-33749913	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr6:33749503-33750041	PFSK-1	brain:	n/a	n/a
4	YY1	chr6:33749070-33749769	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:33749047-33750161	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:33749325-33750409	K562	blood:	n/a	n/a
7	POLR2A	chr6:33749578-33749798	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:33749331-33749762	GM12878	blood:	n/a	n/a
9	YY1	chr6:33749095-33749797	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr6:33749219-33750583	HL-60	blood:	n/a	n/a
11	EP300	chr6:33748809-33750016	ECC-1	luminal epithelium:	n/a	n/a
12	NFIC	chr6:33748743-33749970	ECC-1	luminal epithelium:	n/a	n/a
13	TCF12	chr6:33748935-33750266	ECC-1	luminal epithelium:	n/a	chr6:33750172-33750180
14	TFAP2C	chr6:33749074-33749747	Hela-S3	cervix:	n/a	n/a
15	TCF7L2	chr6:33748715-33749914	PANC-1	pancreas:	n/a	n/a
16	MAX	chr6:33748874-33749995	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr6:33749522-33749748	K562	blood:	n/a	n/a
18	POLR2A	chr6:33748952-33750440	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr6:33749006-33750393	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr6:33749582-33750029	MCF-7	breast:	n/a	n/a
21	TEAD4	chr6:33748730-33749936	ECC-1	luminal epithelium:	n/a	n/a
22	MYC	chr6:33749185-33749755	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr6:33748936-33750243	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr6:33748874-33749767	HUVEC	blood vessel:	n/a	n/a
25	EP300	chr6:33749018-33749805	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr6:33748912-33750065	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr6:33749221-33749797	GM12878	blood:	n/a	n/a
28	JUND	chr6:33748983-33749772	SK-N-SH	brain:	n/a	n/a
29	ATF2	chr6:33748853-33749811	H1-hESC	embryonic stem cell:	n/a	n/a
30	TCF12	chr6:33748737-33749981	ECC-1	luminal epithelium:	n/a	n/a
31	TEAD4	chr6:33748904-33749838	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr6:33749208-33750658	K562	blood:	n/a	n/a
33	POLR2A	chr6:33749229-33749791	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr6:33748677-33750103	PANC-1	pancreas:	n/a	n/a
35	POLR2A	chr6:33748700-33750816	K562	blood:	n/a	n/a
36	ZBTB7A	chr6:33749106-33749783	ECC-1	luminal epithelium:	n/a	n/a
37	MAX	chr6:33748932-33750199	ECC-1	luminal epithelium:	n/a	n/a
38	NFIC	chr6:33748809-33749841	ECC-1	luminal epithelium:	n/a	n/a
39	MAX	chr6:33749205-33749915	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZBTB7A	chr6:33749040-33749937	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr6:33749046-33750566	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr6:33749534-33749768	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:33749207-33749743	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33746735..33748851-chr6:33749721..33751563,2	MCF-7	breast:

No data

Variant related genes	Relation type
LEMD2	TF binding region
ENSG00000161904	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12173787	0.88[EUR][1000 genomes]
rs12190029	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2013365	0.90[AFR][1000 genomes]
rs2281820	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2296744	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2296746	0.81[AFR][1000 genomes]
rs2296747	0.93[AFR][1000 genomes]
rs2296748	0.81[AFR][1000 genomes]
rs2395402	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711347	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4711348	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4711349	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713678	0.80[EUR][1000 genomes]
rs4713679	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4713681	0.93[AFR][1000 genomes]
rs6457741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6929696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs747694	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs751728	0.88[AFR][1000 genomes]
rs7774620	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9357164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380378	0.89[AFR][1000 genomes]
rs9394166	0.81[AFR][1000 genomes]
rs9394167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs943471	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs943474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs943475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs943478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs943479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv462898	chr6:33723383-33768897	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv602840	chr6:33723383-33768897	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 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	chr6:33738600-33753200	Strong transcription	Thymus	Thymus
2	chr6:33739600-33752600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:33739600-33754000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:33739800-33752400	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:33739800-33752600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:33739800-33753000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr6:33739800-33753000	Strong transcription	Primary T cells from cord blood	blood
8	chr6:33739800-33753000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:33739800-33753600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:33740000-33752400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr6:33740000-33752600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:33740000-33752600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:33740000-33752800	Strong transcription	Dnd41	blood
14	chr6:33740000-33753000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:33740000-33753000	Strong transcription	HepG2	liver
16	chr6:33740000-33753200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr6:33740000-33753600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr6:33740000-33753600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr6:33740200-33750000	Strong transcription	Pancreas	Pancrea
20	chr6:33740200-33751600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:33740200-33751800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:33740200-33752400	Strong transcription	Rectal Smooth Muscle	rectum
23	chr6:33740200-33752600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:33740200-33753000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:33740200-33753400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr6:33740200-33754000	Strong transcription	Primary B cells from cord blood	blood
27	chr6:33740400-33752600	Strong transcription	Colon Smooth Muscle	Colon
28	chr6:33740400-33752800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:33740400-33753200	Strong transcription	Aorta	Aorta
30	chr6:33740400-33753600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:33740600-33753000	Strong transcription	Liver	Liver
32	chr6:33740600-33753000	Strong transcription	Colonic Mucosa	Colon
33	chr6:33740600-33754200	Strong transcription	Fetal Intestine Large	intestine
34	chr6:33740600-33754200	Strong transcription	Fetal Intestine Small	intestine
35	chr6:33741000-33751600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:33741000-33752600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr6:33741000-33753000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr6:33741000-33753200	Strong transcription	Fetal Brain Female	brain
39	chr6:33741000-33754000	Strong transcription	Fetal Thymus	thymus
40	chr6:33741400-33753000	Strong transcription	Fetal Lung	lung
41	chr6:33741400-33753000	Strong transcription	Ovary	ovary
42	chr6:33741400-33753200	Strong transcription	Fetal Stomach	stomach
43	chr6:33741600-33751600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr6:33741800-33752600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:33741800-33752800	Strong transcription	Fetal Kidney	kidney
46	chr6:33742400-33752000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
47	chr6:33742400-33752800	Strong transcription	Small Intestine	intestine
48	chr6:33743200-33753200	Strong transcription	GM12878-XiMat	blood
49	chr6:33744200-33754400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:33744600-33750800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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