Variant report

Variant	rs181523911
Chromosome Location	chr8:95566635-95566636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr8:95565100-95566883	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:95565340-95566855	GM12892	blood:	n/a	n/a
3	POLR2A	chr8:95565300-95566765	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr8:95565350-95566755	K562	blood:	n/a	n/a
5	GABPA	chr8:95564622-95566713	MCF-7	breast:	n/a	chr8:95565683-95565692
6	FOXA1	chr8:95566332-95566765	T-47D	breast:	n/a	chr8:95566564-95566579
7	POLR2A	chr8:95565368-95566664	HL-60	blood:	n/a	n/a
8	MAX	chr8:95566148-95566861	A549	lung:	n/a	n/a
9	BHLHE40	chr8:95565323-95566674	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr8:95565483-95566891	K562	blood:	n/a	n/a
11	MYC	chr8:95565410-95566859	K562	blood:	n/a	n/a
12	POLR2A	chr8:95565022-95566820	GM12878	blood:	n/a	n/a
13	ZNF384	chr8:95565434-95566889	K562	blood:	n/a	n/a
14	MYC	chr8:95565468-95566894	K562	blood:	n/a	n/a
15	RELA	chr8:95565251-95566695	GM15510	blood:	n/a	n/a
16	MAX	chr8:95565277-95566801	MCF-7	breast:	n/a	n/a
17	SIN3AK20	chr8:95565066-95566638	MCF-7	breast:	n/a	n/a
18	GATA1	chr8:95565220-95566930	PBDE	blood:	n/a	chr8:95566111-95566122
19	POLR2A	chr8:95565460-95566728	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr8:95565190-95566816	GM12891	blood:	n/a	n/a
21	ZC3H11A	chr8:95565444-95566683	K562	blood:	n/a	n/a
22	POLR2A	chr8:95565328-95566814	PBDE	blood:	n/a	n/a
23	POLR2A	chr8:95565463-95566894	K562	blood:	n/a	n/a
24	IRF1	chr8:95565019-95566860	K562	blood:	n/a	chr8:95565095-95565102 chr8:95565896-95565905 chr8:95565836-95565850
25	MAX	chr8:95565233-95566878	A549	lung:	n/a	n/a
26	POLR2A	chr8:95565359-95566819	GM19099	blood:	n/a	n/a
27	POLR2A	chr8:95566580-95566954	K562	blood:	n/a	n/a
28	POLR2A	chr8:95565434-95566847	K562	blood:	n/a	n/a
29	FOXA1	chr8:95566316-95566765	HepG2	liver:	n/a	chr8:95566564-95566579
30	POLR2A	chr8:95565369-95566848	Raji	blood:	n/a	n/a
31	ZNF263	chr8:95565365-95566934	HEK293-T-REx	kidney:	n/a	n/a
32	SIN3AK20	chr8:95565018-95566914	MCF-7	breast:	n/a	n/a
33	POLR2A	chr8:95565412-95566818	GM18505	blood:	n/a	n/a
34	MAX	chr8:95566259-95566660	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr8:95565008-95567007	SK-N-MC	brain:	n/a	n/a
36	MYC	chr8:95565663-95566846	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr8:95565445-95566938	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr8:95565290-95566860	K562	blood:	n/a	n/a
39	PML	chr8:95565016-95566740	GM12878	blood:	n/a	n/a
40	MYC	chr8:95565596-95566934	MCF10A-Er-Src	breast:	n/a	n/a
41	MAX	chr8:95566223-95566953	K562	blood:	n/a	n/a
42	RCOR1	chr8:95565391-95566941	K562	blood:	n/a	n/a
43	MAX	chr8:95566435-95566808	HepG2	liver:	n/a	n/a
44	RFX5	chr8:95566433-95566681	K562	blood:	n/a	n/a
45	CHD1	chr8:95566496-95566694	GM12878	blood:	n/a	n/a
46	RCOR1	chr8:95565467-95566837	K562	blood:	n/a	n/a
47	MYC	chr8:95565400-95566705	NB4	blood:	n/a	n/a
48	MAX	chr8:95565421-95566728	MCF-7	breast:	n/a	n/a
49	BHLHE40	chr8:95565474-95566799	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95564633..95567300-chr8:95651331..95653603,2	MCF-7	breast:
2	chr8:95564818..95567463-chr8:95729750..95733556,7	MCF-7	breast:
3	chr8:95554974..95557880-chr8:95564950..95566849,3	MCF-7	breast:
4	chr8:95564312..95566828-chr8:95731001..95732970,2	MCF-7	breast:
5	chr8:95565366..95567177-chr8:96036825..96038672,2	K562	blood:

No data

Variant related genes	Relation type
KIAA1429	TF binding region
ENSG00000261437	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000164944	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1017256	chr8:95555083-95570079	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1026768	chr8:95556054-95569566	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1033318	chr8:95556054-95576338	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1032065	chr8:95556054-95578349	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1016339	chr8:95556054-95585807	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1021702	chr8:95556054-95589194	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1033345	chr8:95556375-95570533	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
13	nsv1029802	chr8:95556959-95578349	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers 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	10 gene(s)	inside rSNPs	diseases
14	esv3584580	chr8:95557287-95576350	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv438072	chr8:95558694-95571443	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv971684	chr8:95566071-95577827	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95563400-95566800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:95564000-95567000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:95564200-95566800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr8:95564200-95567000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:95564200-95567000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:95564200-95567000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:95564200-95567200	Active TSS	HMEC	breast
8	chr8:95564200-95567200	Active TSS	K562	blood
9	chr8:95564400-95566800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:95564400-95567000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr8:95564400-95567000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:95564400-95567000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:95564400-95567000	Active TSS	Aorta	Aorta
14	chr8:95564400-95567000	Active TSS	Fetal Intestine Large	intestine
15	chr8:95564400-95567000	Active TSS	Right Atrium	heart
16	chr8:95564400-95567200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:95564400-95567200	Active TSS	NHLF	lung
18	chr8:95564600-95566800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:95564600-95566800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:95564600-95566800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr8:95564600-95567000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:95564600-95567000	Active TSS	Fetal Kidney	kidney
23	chr8:95564600-95567000	Active TSS	HSMMtube	muscle
24	chr8:95564600-95567200	Active TSS	Muscle Satellite Cultured Cells	--
25	chr8:95564600-95567200	Active TSS	A549	lung
26	chr8:95564600-95567200	Active TSS	NHDF-Ad	bronchial
27	chr8:95564600-95567400	Active TSS	GM12878-XiMat	blood
28	chr8:95564800-95566800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:95564800-95566800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:95564800-95566800	Active TSS	Brain Substantia Nigra	brain
31	chr8:95564800-95566800	Active TSS	Left Ventricle	heart
32	chr8:95564800-95566800	Active TSS	Thymus	Thymus
33	chr8:95564800-95567000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr8:95564800-95567000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr8:95564800-95567000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr8:95564800-95567000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:95564800-95567000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:95564800-95567000	Active TSS	Brain Hippocampus Middle	brain
39	chr8:95564800-95567000	Active TSS	Esophagus	oesophagus
40	chr8:95564800-95567000	Active TSS	Ovary	ovary
41	chr8:95564800-95567000	Active TSS	Placenta Amnion	Placenta Amnion
42	chr8:95564800-95567000	Active TSS	Psoas Muscle	Psoas
43	chr8:95564800-95567000	Active TSS	Right Ventricle	heart
44	chr8:95564800-95567000	Active TSS	HSMM	muscle
45	chr8:95564800-95567400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:95564800-95567400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:95565000-95566800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:95565000-95566800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:95565000-95566800	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr8:95565000-95566800	Active TSS	Fetal Intestine Small	intestine

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