Variant report

Variant	rs7770412
Chromosome Location	chr6:33373341-33373342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33373106-33373819	GM12892	blood:	n/a	n/a
2	POLR2A	chr6:33373180-33374571	K562	blood:	n/a	n/a
3	POLR2A	chr6:33373224-33373637	GM12891	blood:	n/a	n/a
4	POLR2A	chr6:33372752-33375131	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr6:33372976-33374493	K562	blood:	n/a	n/a
6	POLR2A	chr6:33373245-33373944	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr6:33370644-33376342	K562	blood:	n/a	n/a
8	POLR2A	chr6:33373200-33373392	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:33372940-33374517	HL-60	blood:	n/a	n/a
10	POLR2A	chr6:33373126-33373814	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr6:33373104-33374761	K562	blood:	n/a	n/a
12	POLR2A	chr6:33373325-33373849	GM12892	blood:	n/a	n/a
13	POLR2A	chr6:33372971-33374562	K562	blood:	n/a	n/a
14	POLR2A	chr6:33373270-33373795	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr6:33373240-33373942	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr6:33373229-33373808	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:33373242-33373849	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:33373159-33373921	GM12892	blood:	n/a	n/a
19	ZNF263	chr6:33373297-33374418	HEK293-T-REx	kidney:	n/a	chr6:33373441-33373450
20	POLR2A	chr6:33372971-33373809	GM12891	blood:	n/a	n/a
21	POLR2A	chr6:33373265-33373875	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:33373063-33373871	GM12892	blood:	n/a	n/a
23	POLR2A	chr6:33373224-33373819	HL-60	blood:	n/a	n/a
24	POLR2A	chr6:33372454-33374796	K562	blood:	n/a	n/a
25	POLR2A	chr6:33373183-33373760	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:33372533-33373770	K562	blood:	n/a	n/a
27	POLR2A	chr6:33373019-33373631	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:33373201-33373655	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr6:33373046-33373890	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33264302..33268972-chr6:33371896..33376016,7	MCF-7	breast:
2	chr6:33357351..33361150-chr6:33373102..33380127,12	MCF-7	breast:
3	chr6:33371627..33375942-chr6:33381284..33387543,6	K562	blood:
4	chr6:33237328..33248026-chr6:33370896..33379989,29	K562	blood:
5	chr6:33371807..33373727-chr6:33376034..33378681,4	MCF-7	breast:
6	chr6:33281863..33285141-chr6:33371862..33373763,3	K562	blood:
7	chr6:33237079..33247876-chr6:33369927..33381738,26	K562	blood:
8	chr6:33356271..33363521-chr6:33371085..33380351,32	K562	blood:
9	chr6:33261946..33266253-chr6:33371455..33374620,4	K562	blood:

No data

Variant related genes	Relation type
KIFC1	TF binding region
PHF1	TF binding region
ENSG00000231925	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000112514	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58438033	0.89[ASN][1000 genomes]
rs6900352	1.00[AMR][1000 genomes]
rs6907610	1.00[AMR][1000 genomes]
rs7742916	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7769296	0.83[EUR][1000 genomes]
rs9688415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33360000-33377400	Weak transcription	Small Intestine	intestine
2	chr6:33360000-33377600	Weak transcription	Right Atrium	heart
3	chr6:33360400-33377600	Weak transcription	Esophagus	oesophagus
4	chr6:33360400-33377600	Weak transcription	Lung	lung
5	chr6:33360800-33377200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:33361000-33377200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:33361200-33377200	Weak transcription	Colonic Mucosa	Colon
8	chr6:33361200-33377800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:33361600-33377200	Weak transcription	Primary B cells from cord blood	blood
10	chr6:33362200-33377600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:33362800-33376200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:33363000-33376400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:33363000-33376400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:33363200-33377200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:33363200-33377200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:33363400-33376400	Strong transcription	Fetal Thymus	thymus
17	chr6:33363400-33377200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:33363400-33377200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:33364000-33377200	Weak transcription	Fetal Heart	heart
20	chr6:33365200-33376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:33365400-33375800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:33365400-33375800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr6:33365400-33376200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:33365400-33376200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr6:33365400-33376600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:33365400-33376600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:33365400-33376600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:33365400-33376800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr6:33365400-33376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:33365400-33376800	Strong transcription	K562	blood
31	chr6:33365600-33376000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:33366000-33375800	Strong transcription	Dnd41	blood
33	chr6:33366400-33377200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:33366400-33377200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:33368400-33374800	Strong transcription	NHLF	lung
36	chr6:33369200-33375200	Strong transcription	Fetal Lung	lung
37	chr6:33369400-33375400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:33369400-33376200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:33369600-33374200	Strong transcription	Thymus	Thymus
40	chr6:33369600-33374600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:33369800-33374600	Strong transcription	Primary hematopoietic stem cells	blood
42	chr6:33369800-33376000	Strong transcription	HepG2	liver
43	chr6:33369800-33376200	Strong transcription	HMEC	breast
44	chr6:33369800-33377000	Strong transcription	Hela-S3	cervix
45	chr6:33370000-33374800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:33370000-33375200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:33370000-33376000	Strong transcription	HUVEC	blood vessel
48	chr6:33370400-33375600	Strong transcription	Fetal Muscle Leg	muscle
49	chr6:33370400-33376200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:33370600-33374400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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