Variant report

Variant	rs550094842
Chromosome Location	chr8:52810918-52810919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:186)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:186 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:52810595-52813244	GM19099	blood:	n/a	n/a
2	CTCF	chr8:52810809-52811021	GM12878	blood:	n/a	n/a
3	MXI1	chr8:52809990-52811142	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:52810862-52812536	HL-60	blood:	n/a	n/a
5	POLR2A	chr8:52810421-52812431	HUVEC	blood vessel:	n/a	n/a
6	MAZ	chr8:52810721-52812795	IMR90	lung:	n/a	chr8:52811172-52811182
7	HCFC1	chr8:52810364-52812568	Hela-S3	cervix:	n/a	n/a
8	MYC	chr8:52810181-52812787	Hela-S3	cervix:	n/a	chr8:52811172-52811182
9	POLR2A	chr8:52810298-52812957	GM18951	blood:	n/a	n/a
10	TBL1XR1	chr8:52810670-52811045	K562	blood:	n/a	n/a
11	SPI1	chr8:52810774-52811004	GM12891	blood:	n/a	n/a
12	REST	chr8:52810741-52811070	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr8:52810734-52811179	U87	brain:	n/a	n/a
14	POLR2A	chr8:52810460-52813304	GM18505	blood:	n/a	n/a
15	POLR2A	chr8:52810151-52812914	Hela-S3	cervix:	n/a	n/a
16	RFX5	chr8:52809839-52811196	Hela-S3	cervix:	n/a	n/a
17	TCF12	chr8:52810772-52811090	GM12878	blood:	n/a	n/a
18	SIN3AK20	chr8:52810730-52812502	MCF-7	breast:	n/a	n/a
19	POLR2A	chr8:52810666-52811271	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:52810747-52811250	GM12891	blood:	n/a	n/a
21	POLR2A	chr8:52810907-52811169	HCT-116	colon:	n/a	n/a
22	POLR2A	chr8:52810762-52812495	GM12878	blood:	n/a	n/a
23	ATF2	chr8:52810669-52811095	GM12878	blood:	n/a	n/a
24	TAF1	chr8:52810851-52811161	H1-hESC	embryonic stem cell:	n/a	n/a
25	YY1	chr8:52810732-52811189	GM12878	blood:	n/a	n/a
26	PML	chr8:52810212-52813305	GM12878	blood:	n/a	n/a
27	EBF1	chr8:52810462-52811161	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:52810796-52811213	HUVEC	blood vessel:	n/a	n/a
29	TAF1	chr8:52810906-52811167	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr8:52810784-52811127	H1-neurons	neurons:	n/a	n/a
31	POU2F2	chr8:52810746-52811087	GM12891	blood:	n/a	chr8:52810812-52810833
32	STAT3	chr8:52810917-52811009	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr8:52810748-52811135	SK-N-MC	brain:	n/a	n/a
34	CHD2	chr8:52810215-52812751	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr8:52810556-52812801	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:52810757-52812785	K562	blood:	n/a	n/a
37	MAZ	chr8:52810404-52812377	K562	blood:	n/a	chr8:52811172-52811182
38	POLR2A	chr8:52810743-52811200	K562	blood:	n/a	n/a
39	MTA3	chr8:52810360-52813108	GM12878	blood:	n/a	n/a
40	POLR2A	chr8:52810849-52812710	MCF-7	breast:	n/a	n/a
41	BCLAF1	chr8:52810667-52811137	GM12878	blood:	n/a	n/a
42	RCOR1	chr8:52810731-52811197	GM12878	blood:	n/a	n/a
43	TCF7L2	chr8:52810775-52811194	Hela-S3	cervix:	n/a	n/a
44	MAX	chr8:52810908-52811062	K562	blood:	n/a	n/a
45	POLR2A	chr8:52810656-52811179	GM12892	blood:	n/a	n/a
46	POLR2A	chr8:52810778-52812411	K562	blood:	n/a	n/a
47	POLR2A	chr8:52810812-52812444	H1-neurons	neurons:	n/a	n/a
48	CTCF	chr8:52810780-52810930	GM06990	blood:	n/a	n/a
49	GTF2F1	chr8:52810470-52811171	Hela-S3	cervix:	n/a	n/a
50	UBTF	chr8:52810275-52812377	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52807403..52809441-chr8:52809988..52811800,2	MCF-7	breast:
2	chr16:2204828..2205571-chr8:52810604..52811800,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000228801	TF binding region
ENSG00000253475	TF binding region
ENSG00000260260	Chromatin interaction
ENSG00000253475	Chromatin interaction
ENSG00000206630	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv3375906	chr8:52810224-52812772	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	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	chr8:52808800-52812800	Active TSS	Fetal Brain Female	brain
2	chr8:52809000-52813000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:52809000-52813200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:52809000-52813400	Active TSS	Ovary	ovary
5	chr8:52809000-52814000	Active TSS	GM12878-XiMat	blood
6	chr8:52809200-52811000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:52809200-52812800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:52809200-52812800	Active TSS	K562	blood
9	chr8:52809200-52813000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr8:52809200-52813000	Active TSS	Stomach Smooth Muscle	stomach
11	chr8:52809200-52814000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:52809400-52811000	Active TSS	Fetal Brain Male	brain
13	chr8:52809400-52812800	Active TSS	NHLF	lung
14	chr8:52809400-52813000	Active TSS	Fetal Muscle Leg	muscle
15	chr8:52809400-52813000	Active TSS	Fetal Stomach	stomach
16	chr8:52809600-52812600	Active TSS	Fetal Thymus	thymus
17	chr8:52809600-52812800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:52809600-52813000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:52809600-52813000	Active TSS	Fetal Intestine Large	intestine
20	chr8:52809600-52813000	Active TSS	Right Ventricle	heart
21	chr8:52809600-52813000	Active TSS	NHDF-Ad	bronchial
22	chr8:52809600-52813200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:52809600-52813200	Active TSS	Right Atrium	heart
24	chr8:52809600-52813400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:52809600-52813400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:52809600-52813400	Active TSS	HSMM	muscle
27	chr8:52809600-52813600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:52809600-52813600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:52809800-52811000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr8:52809800-52811000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:52809800-52811400	Active TSS	Aorta	Aorta
32	chr8:52809800-52811800	Active TSS	HepG2	liver
33	chr8:52809800-52812800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr8:52809800-52812800	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:52809800-52812800	Active TSS	Fetal Kidney	kidney
36	chr8:52809800-52812800	Active TSS	Stomach Mucosa	stomach
37	chr8:52809800-52813000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr8:52809800-52813000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:52809800-52813000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:52809800-52813000	Active TSS	Thymus	Thymus
41	chr8:52809800-52813000	Active TSS	HMEC	breast
42	chr8:52809800-52813000	Active TSS	HSMMtube	muscle
43	chr8:52809800-52813200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:52809800-52813200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr8:52809800-52813200	Active TSS	Colonic Mucosa	Colon
46	chr8:52809800-52813400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:52809800-52813400	Active TSS	Psoas Muscle	Psoas
48	chr8:52809800-52813800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr8:52810000-52811000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:52810000-52811000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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