Variant report

Variant	rs572646702
Chromosome Location	chr8:91658214-91658215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr8:91656996-91659767	MCF-7	breast:	n/a	chr8:91658377-91658386 chr8:91658629-91658643 chr8:91658400-91658409
2	MYC	chr8:91657368-91658706	MCF-7	breast:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
3	TAF1	chr8:91657658-91658461	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:91657103-91658971	GM18526	blood:	n/a	n/a
5	JUN	chr8:91658204-91658945	K562	blood:	n/a	n/a
6	RCOR1	chr8:91658068-91658693	HepG2	liver:	n/a	n/a
7	TAF1	chr8:91657790-91658548	GM12878	blood:	n/a	n/a
8	MYC	chr8:91656787-91658969	K562	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
9	ETS1	chr8:91657764-91658864	K562	blood:	n/a	chr8:91658375-91658386
10	MAX	chr8:91656868-91659002	HCT-116	colon:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
11	POLR2A	chr8:91657174-91658845	H1-hESC	embryonic stem cell:	n/a	n/a
12	PAX5	chr8:91657889-91658828	GM12892	blood:	n/a	chr8:91658635-91658644
13	RCOR1	chr8:91657100-91660085	K562	blood:	n/a	n/a
14	EGR1	chr8:91658119-91658806	K562	blood:	n/a	chr8:91658373-91658387 chr8:91658372-91658385 chr8:91658377-91658387 chr8:91658372-91658385
15	SP1	chr8:91658178-91658921	GM12878	blood:	n/a	chr8:91658376-91658388 chr8:91658377-91658387 chr8:91658378-91658387 chr8:91658377-91658386 chr8:91658378-91658387 chr8:91658509-91658522 chr8:91658398-91658407 chr8:91658373-91658387 chr8:91658376-91658388 chr8:91658377-91658387
16	IRF1	chr8:91657993-91658928	K562	blood:	n/a	chr8:91658396-91658410 chr8:91658376-91658390
17	MYC	chr8:91657078-91659030	K562	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
18	YY1	chr8:91657988-91658886	GM12878	blood:	n/a	chr8:91658380-91658394 chr8:91658167-91658176 chr8:91658377-91658386
19	POLR2A	chr8:91657583-91659022	HUVEC	blood vessel:	n/a	n/a
20	MAX	chr8:91657115-91659204	GM12878	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
21	STAT1	chr8:91658144-91658912	GM12878	blood:	n/a	n/a
22	CTCF	chr8:91656549-91659045	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr8:91657168-91658960	GM12878	blood:	n/a	n/a
24	TBP	chr8:91656974-91658886	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr8:91657039-91658911	GM12878	blood:	n/a	n/a
26	UBTF	chr8:91657054-91659223	K562	blood:	n/a	n/a
27	TBL1XR1	chr8:91658133-91658608	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:91657043-91659045	K562	blood:	n/a	n/a
29	POLR2A	chr8:91657034-91658925	GM12892	blood:	n/a	n/a
30	PAX5	chr8:91658165-91658792	GM12878	blood:	n/a	chr8:91658635-91658644
31	POLR2A	chr8:91658162-91658418	GM12891	blood:	n/a	n/a
32	CTBP2	chr8:91657076-91659297	H1-hESC	embryonic stem cell:	n/a	n/a
33	EGR1	chr8:91658204-91658587	GM12878	blood:	n/a	chr8:91658373-91658387 chr8:91658372-91658385 chr8:91658377-91658387 chr8:91658372-91658385
34	MAX	chr8:91657206-91658915	K562	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
35	BHLHE40	chr8:91658203-91658808	HepG2	liver:	n/a	n/a
36	ETS1	chr8:91657387-91658953	K562	blood:	n/a	chr8:91658375-91658386
37	E2F4	chr8:91657252-91658850	K562	blood:	n/a	chr8:91658377-91658386 chr8:91658629-91658643 chr8:91658400-91658409
38	POLR2A	chr8:91658116-91658994	K562	blood:	n/a	n/a
39	POLR2A	chr8:91657639-91658870	ECC-1	luminal epithelium:	n/a	n/a
40	BHLHE40	chr8:91658002-91659747	K562	blood:	n/a	n/a
41	POLR2A	chr8:91658104-91659009	U87	brain:	n/a	n/a
42	MXI1	chr8:91656257-91659013	IMR90	lung:	n/a	n/a
43	POLR2A	chr8:91657986-91658847	PFSK-1	brain:	n/a	n/a
44	E2F6	chr8:91657308-91658890	K562	blood:	n/a	chr8:91658377-91658386 chr8:91658629-91658643 chr8:91658400-91658409
45	POLR2A	chr8:91657225-91658834	GM12878	blood:	n/a	n/a
46	ELF1	chr8:91658186-91658902	K562	blood:	n/a	n/a
47	MAX	chr8:91657024-91658950	ECC-1	luminal epithelium:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
48	POLR2A	chr8:91658105-91659205	K562	blood:	n/a	n/a
49	POLR2A	chr8:91657560-91658854	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr8:91657658-91658912	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:91658185-91658235	GM12891	blood:	n/a
2	chr8:91658185-91658235	NB4	blood:	n/a
3	chr8:91658185-91658235	PANC-1	pancreas:	n/a
4	chr8:91658185-91658235	HRCEpiC	kidney:	n/a
5	chr8:91658185-91658235	AG10803	skin:	n/a
6	chr8:91658185-91658235	A549	lung:	n/a
7	chr8:91658185-91658235	BJ	skin:	n/a
8	chr8:91658185-91658235	SKMC	muscle:	n/a
9	chr8:91658185-91658235	CMK	blood:	n/a
10	chr8:91658185-91658235	SK-N-SH	brain:	n/a
11	chr8:91658185-91658235	ProgFib	skin:	n/a
12	chr8:91658185-91658235	AoSMC	blood vessel:	n/a
13	chr8:91658185-91658235	ovcar-3	ovarian:	n/a
14	chr8:91658185-91658235	T-47D	breast:	n/a
15	chr8:91658185-91658235	BE2_C	brain:	n/a
16	chr8:91658185-91658235	NHDF-neo	bronchial:	n/a
17	chr8:91658185-91658235	HEK293	kidney:	embryo
18	chr8:91658185-91658235	Caco-2	colon:	n/a
19	chr8:91658185-91658235	GM19239	blood:	n/a
20	chr8:91658185-91658235	NT2-D1	testis:	n/a
21	chr8:91658185-91658235	AG04450	lung:	fetal
22	chr8:91658185-91658235	K562	blood:	n/a
23	chr8:91658185-91658235	AG04449	skin:	fetal
24	chr8:91658185-91658235	U87	brain:	n/a
25	chr8:91658185-91658235	NHBE	bronchial:	n/a
26	chr8:91658185-91658235	GM12878	blood:	n/a
27	chr8:91658185-91658235	HIPEpiC	eye:	n/a
28	chr8:91658185-91658235	RPTEC	kidney:	n/a
29	chr8:91658185-91658235	GM12892	blood:	n/a
30	chr8:91658185-91658235	ECC-1	luminal epithelium:	n/a
31	chr8:91658185-91658235	HEEpiC	esophagus:	n/a
32	chr8:91658185-91658235	HAEpiC	amniotic membrane:	n/a
33	chr8:91658185-91658235	HCT-116	colon:	n/a
34	chr8:91658185-91658235	HL-60	blood:	n/a
35	chr8:91658185-91658235	PFSK-1	brain:	n/a
36	chr8:91658185-91658235	HRE	kidney:	n/a
37	chr8:91658185-91658235	LNCaP	prostate:	n/a
38	chr8:91658185-91658235	NH-A	brain:	n/a
39	chr8:91658185-91658235	PrEC	prostate:	n/a
40	chr8:91658185-91658235	MCF10A-Er-Src	breast:	n/a
41	chr8:91658185-91658235	HCF	heart:	n/a
42	chr8:91658185-91658235	Hela-S3	cervix:	n/a
43	chr8:91658185-91658235	H1-hESC	embryonic stem cell:	embryo
44	chr8:91658185-91658235	Jurkat	blood:	n/a
45	chr8:91658185-91658235	SK-N-MC	brain:	n/a
46	chr8:91658185-91658235	AG09309	skin:	n/a
47	chr8:91658185-91658235	HCPEpiC	choroid plexus:	n/a
48	chr8:91658185-91658235	Hepatocyte	liver:	n/a
49	chr8:91658185-91658235	IMR90	lung:	fetal
50	chr8:91658185-91658235	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90769811..90771678-chr8:91656094..91659219,3	MCF-7	breast:
2	chr8:91011918..91015233-chr8:91657389..91660471,3	K562	blood:
3	chr20:34329867..34330624-chr8:91657918..91658748,2	Hela-S3	cervix:
4	chr8:91656931..91659194-chr8:91950733..91953046,3	MCF-7	breast:
5	chr8:90995523..90999017-chr8:91656346..91659175,4	K562	blood:
6	chr12:120729453..120731946-chr8:91656614..91658294,2	MCF-7	breast:
7	chr18:11850609..11852706-chr8:91655783..91658479,2	MCF-7	breast:
8	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
9	chr8:91656166..91658679-chr9:96213011..96215220,2	MCF-7	breast:
10	chr17:58468866..58470563-chr8:91656695..91658244,2	MCF-7	breast:
11	chr20:32251381..32251920-chr8:91658173..91658709,2	HCT-116	colon:
12	chr8:91656974..91659329-chr8:91869981..91872238,2	MCF-7	breast:
13	chr8:91656618..91662321-chr8:91871461..91875565,6	MCF-7	breast:
14	chr8:90914455..90916377-chr8:91657322..91659594,2	K562	blood:
15	chr1:93297138..93298008-chr8:91657918..91658510,2	Hela-S3	cervix:
16	chr8:91657088..91659265-chr8:92082267..92084187,3	K562	blood:
17	chr8:91656709..91659502-chr8:92055238..92057822,3	K562	blood:
18	chr17:58677174..58679477-chr8:91656621..91658384,2	MCF-7	breast:

Variant related genes	Relation type
TMEM64	TF binding region
ENSG00000246792	TF binding region
TMEM64	CpG island
ENSG00000246792	CpG island
ENSG00000251136	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000254219	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000255112	Chromatin interaction
ENSG00000122406	Chromatin interaction
ENSG00000254251	Chromatin interaction
ENSG00000131051	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000253738	Chromatin interaction
ENSG00000170836	Chromatin interaction
ENSG00000125967	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000155100	Chromatin interaction
ENSG00000123119	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
2	esv3379954	chr8:91657026-91659374	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91652200-91659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr8:91654000-91659200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:91654000-91659400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr8:91654200-91659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:91654400-91659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:91655000-91659000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:91655000-91659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr8:91655200-91658600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:91655200-91658800	Active TSS	Fetal Intestine Large	intestine
10	chr8:91655200-91658800	Active TSS	K562	blood
11	chr8:91655200-91659200	Active TSS	HSMMtube	muscle
12	chr8:91655400-91658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:91655400-91658800	Active TSS	Right Ventricle	heart
14	chr8:91655400-91659000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:91655600-91658400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:91655600-91658600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr8:91655600-91658600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:91655600-91658600	Active TSS	GM12878-XiMat	blood
19	chr8:91655600-91658600	Active TSS	HMEC	breast
20	chr8:91655600-91658800	Active TSS	NHDF-Ad	bronchial
21	chr8:91655600-91659000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr8:91655600-91659000	Active TSS	HSMM	muscle
23	chr8:91655600-91659000	Active TSS	NHLF	lung
24	chr8:91655800-91658800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:91655800-91658800	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr8:91655800-91658800	Active TSS	Fetal Muscle Leg	muscle
27	chr8:91655800-91659000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:91655800-91659000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:91655800-91659000	Active TSS	Psoas Muscle	Psoas
30	chr8:91655800-91659200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:91656000-91658800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:91656000-91658800	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr8:91656000-91658800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:91656000-91658800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr8:91656000-91658800	Active TSS	Fetal Intestine Small	intestine
36	chr8:91656000-91659000	Active TSS	Aorta	Aorta
37	chr8:91656000-91659000	Active TSS	Ovary	ovary
38	chr8:91656200-91658600	Active TSS	Placenta Amnion	Placenta Amnion
39	chr8:91656200-91658800	Active TSS	Fetal Lung	lung
40	chr8:91656400-91658600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:91656400-91658600	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr8:91656400-91658600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:91656400-91658800	Active TSS	Muscle Satellite Cultured Cells	--
44	chr8:91656400-91658800	Active TSS	Brain Angular Gyrus	brain
45	chr8:91656400-91658800	Active TSS	Brain Hippocampus Middle	brain
46	chr8:91656400-91659000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr8:91656400-91659000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr8:91656400-91659000	Active TSS	NH-A	brain
49	chr8:91656400-91659200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:91656600-91658600	Active TSS	Thymus	Thymus

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