Variant report

Variant	rs6433295
Chromosome Location	chr2:172374000-172374001
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:172373611-172374208	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:172373796-172374244	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:172373677-172374186	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:172373648-172374333	GM12892	blood:	n/a	n/a
5	POLR2A	chr2:172373839-172374208	A549	lung:	n/a	n/a
6	HEY1	chr2:172373756-172374138	K562	blood:	n/a	n/a
7	POLR2A	chr2:172373774-172374248	A549	lung:	n/a	n/a
8	HEY1	chr2:172373679-172374278	K562	blood:	n/a	n/a
9	GABPA	chr2:172373908-172374236	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:172373648-172374372	GM12878	blood:	n/a	n/a
11	TCF12	chr2:172373990-172374265	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:172373836-172374227	A549	lung:	n/a	n/a
13	POLR2A	chr2:172373700-172374213	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:172373583-172374271	GM12892	blood:	n/a	n/a
15	POLR2A	chr2:172373927-172374205	HepG2	liver:	n/a	n/a
16	TCF3	chr2:172373934-172374310	GM12878	blood:	n/a	n/a
17	HEY1	chr2:172373849-172374271	HepG2	liver:	n/a	n/a
18	SPI1	chr2:172373891-172374082	K562	blood:	n/a	n/a
19	POLR2A	chr2:172373713-172374217	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:172373980-172374193	MCF-7	breast:	n/a	n/a
21	ZBTB33	chr2:172373603-172374367	K562	blood:	n/a	n/a
22	POLR2A	chr2:172373817-172374218	A549	lung:	n/a	n/a
23	POLR2A	chr2:172373921-172374078	Hela-S3	cervix:	n/a	n/a
24	TAF1	chr2:172373796-172374248	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:172373713-172374029	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr2:172373851-172374250	GM12878	blood:	n/a	n/a
27	POU2F2	chr2:172373745-172374337	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:172373796-172374213	HepG2	liver:	n/a	n/a
29	REST	chr2:172373835-172374242	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr2:172373899-172374237	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172370595..172374063-chr2:172374486..172376934,3	MCF-7	breast:
2	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:

No data

Variant related genes	Relation type
CYBRD1	TF binding region
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 2 )

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	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv979148	chr2:172373054-172375371	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6433295	CYBRD1	cis	Esophagus Muscularis	GTEx
rs6433295	CYBRD1	cis	Whole Blood	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172367000-172378000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172370800-172378400	Weak transcription	Right Ventricle	heart
3	chr2:172371200-172376200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:172371600-172375800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:172371600-172376400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:172372400-172376200	Weak transcription	GM12878-XiMat	blood
7	chr2:172372400-172376400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:172372600-172374000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:172373000-172378000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:172373200-172378200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:172373200-172378200	Weak transcription	Osteobl	bone
12	chr2:172373400-172377600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:172373400-172378000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:172373400-172378000	Weak transcription	HSMM	muscle
15	chr2:172373600-172374400	Active TSS	Placenta	Placenta
16	chr2:172373600-172375800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:172373600-172375800	Weak transcription	HSMMtube	muscle
18	chr2:172373600-172375800	Weak transcription	K562	blood
19	chr2:172373600-172377800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:172373600-172377800	Weak transcription	NHDF-Ad	bronchial
21	chr2:172373600-172378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:172373600-172378200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:172373600-172378200	Weak transcription	NH-A	brain
24	chr2:172373600-172378400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:172373600-172378800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:172373800-172376400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:172373800-172377000	Weak transcription	Fetal Thymus	thymus
28	chr2:172373800-172377800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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