Variant report

Variant	rs374040300
Chromosome Location	chr8:91657308-91657309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:402)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:91657168-91657387	HepG2	liver:	n/a	n/a
2	HA-E2F1	chr8:91656996-91659767	MCF-7	breast:	n/a	chr8:91658377-91658386 chr8:91658629-91658643 chr8:91658400-91658409
3	TBP	chr8:91656945-91657438	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr8:91657180-91657330	WERI-Rb-1	eye:	n/a	n/a
5	SIN3AK20	chr8:91657125-91657404	A549	lung:	n/a	n/a
6	POLR2A	chr8:91657103-91658971	GM18526	blood:	n/a	n/a
7	MYC	chr8:91656787-91658969	K562	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
8	TCF7L2	chr8:91657148-91657701	Hela-S3	cervix:	n/a	n/a
9	SIN3AK20	chr8:91654807-91658067	MCF-7	breast:	n/a	n/a
10	MAX	chr8:91656868-91659002	HCT-116	colon:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
11	NFIC	chr8:91657014-91657405	GM12878	blood:	n/a	n/a
12	ZBTB7A	chr8:91657205-91657852	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr8:91657174-91658845	H1-hESC	embryonic stem cell:	n/a	n/a
14	RCOR1	chr8:91657100-91660085	K562	blood:	n/a	n/a
15	CTCF	chr8:91657180-91657330	NB4	blood:	n/a	n/a
16	RAD21	chr8:91657087-91657423	GM12878	blood:	n/a	n/a
17	CTCF	chr8:91657180-91657330	GM12873	blood:	n/a	n/a
18	RAD21	chr8:91657027-91657486	SK-N-SH_RA	brain:	n/a	n/a
19	MYC	chr8:91657078-91659030	K562	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
20	TAF7	chr8:91657123-91657850	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr8:91657081-91657644	ECC-1	luminal epithelium:	n/a	n/a
22	CTCF	chr8:91657200-91657350	GM12864	blood:	n/a	n/a
23	MAX	chr8:91657115-91659204	GM12878	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
24	CTCF	chr8:91657180-91657330	GM12801	blood:	n/a	n/a
25	CTCF	chr8:91656549-91659045	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr8:91657168-91658960	GM12878	blood:	n/a	n/a
27	TBP	chr8:91656974-91658886	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr8:91657039-91658911	GM12878	blood:	n/a	n/a
29	UBTF	chr8:91657054-91659223	K562	blood:	n/a	n/a
30	POLR2A	chr8:91657043-91659045	K562	blood:	n/a	n/a
31	CTCF	chr8:91657150-91657409	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr8:91657034-91658925	GM12892	blood:	n/a	n/a
33	CEBPB	chr8:91656481-91657412	Hela-S3	cervix:	n/a	chr8:91656851-91656862
34	STAT1	chr8:91657183-91657516	GM12878	blood:	n/a	n/a
35	CTCF	chr8:91657180-91657330	HA-sp	spinal cord:	n/a	n/a
36	JUND	chr8:91657014-91657585	H1-hESC	embryonic stem cell:	n/a	chr8:91657083-91657095
37	CTCF	chr8:91657183-91657353	LNCaP	prostate:	n/a	n/a
38	CTCF	chr8:91657180-91657330	AoAF	blood vessel:	n/a	n/a
39	CTBP2	chr8:91657076-91659297	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr8:91657200-91657350	NHEK	skin:	n/a	n/a
41	CTCF	chr8:91657160-91657310	GM12864	blood:	n/a	n/a
42	CTCF	chr8:91657180-91657330	HMF	breast:	n/a	n/a
43	CTCF	chr8:91657160-91657310	GM12872	blood:	n/a	n/a
44	ZNF143	chr8:91657065-91657668	Hela-S3	cervix:	n/a	n/a
45	MAX	chr8:91657206-91658915	K562	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
46	CTCF	chr8:91657168-91657350	Pancreas_OC	pancreas:	n/a	n/a
47	E2F4	chr8:91657252-91658850	K562	blood:	n/a	chr8:91658377-91658386 chr8:91658629-91658643 chr8:91658400-91658409
48	BACH1	chr8:91657213-91657663	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr8:91657283-91657866	H1-hESC	embryonic stem cell:	n/a	n/a
50	TEAD4	chr8:91657090-91657500	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:91657290-91657340	HCT-116	colon:	n/a
2	chr8:91657290-91657340	BJ	skin:	n/a
3	chr8:91657290-91657340	AG09309	skin:	n/a
4	chr8:91657290-91657340	GM12892	blood:	n/a
5	chr8:91657290-91657340	HMEC	breast:	n/a
6	chr8:91657290-91657340	SK-N-MC	brain:	n/a
7	chr8:91657290-91657340	AoSMC	blood vessel:	n/a
8	chr8:91657290-91657340	ECC-1	luminal epithelium:	n/a
9	chr8:91657290-91657340	HRCEpiC	kidney:	n/a
10	chr8:91657290-91657340	HUVEC	blood vessel:	n/a
11	chr8:91657290-91657340	AG04449	skin:	fetal
12	chr8:91657290-91657340	Caco-2	colon:	n/a
13	chr8:91657290-91657340	MCF10A-Er-Src	breast:	n/a
14	chr8:91657290-91657340	PANC-1	pancreas:	n/a
15	chr8:91657290-91657340	NH-A	brain:	n/a
16	chr8:91657290-91657340	NHDF-neo	bronchial:	n/a
17	chr8:91657290-91657340	HCM	heart:	n/a
18	chr8:91657290-91657340	H1-hESC	embryonic stem cell:	embryo
19	chr8:91657290-91657340	HEEpiC	esophagus:	n/a
20	chr8:91657290-91657340	ovcar-3	ovarian:	n/a
21	chr8:91657290-91657340	Hepatocyte	liver:	n/a
22	chr8:91657290-91657340	GM12878	blood:	n/a
23	chr8:91657290-91657340	IMR90	lung:	fetal
24	chr8:91657290-91657340	AG04450	lung:	fetal
25	chr8:91657290-91657340	HL-60	blood:	n/a
26	chr8:91657290-91657340	A549	lung:	n/a
27	chr8:91657290-91657340	HNPCEpiC	eye:	n/a
28	chr8:91657290-91657340	Jurkat	blood:	n/a
29	chr8:91657290-91657340	AG09319	gingival:	n/a
30	chr8:91657290-91657340	HCPEpiC	choroid plexus:	n/a
31	chr8:91657290-91657340	HRPEpiC	eye:	n/a
32	chr8:91657290-91657340	SKMC	muscle:	n/a
33	chr8:91657290-91657340	MCF-7	breast:	n/a
34	chr8:91657290-91657340	ProgFib	skin:	n/a
35	chr8:91657290-91657340	AG10803	skin:	n/a
36	chr8:91657290-91657340	K562	blood:	n/a
37	chr8:91657290-91657340	NT2-D1	testis:	n/a
38	chr8:91657290-91657340	PrEC	prostate:	n/a
39	chr8:91657290-91657340	T-47D	breast:	n/a
40	chr8:91657290-91657340	RPTEC	kidney:	n/a
41	chr8:91657290-91657340	HRE	kidney:	n/a
42	chr8:91657290-91657340	NB4	blood:	n/a
43	chr8:91657290-91657340	CMK	blood:	n/a
44	chr8:91657290-91657340	SK-N-SH_RA	brain:	n/a
45	chr8:91657290-91657340	GM12891	blood:	n/a
46	chr8:91657290-91657340	HEK293	kidney:	embryo
47	chr8:91657290-91657340	HAEpiC	amniotic membrane:	n/a
48	chr8:91657290-91657340	PFSK-1	brain:	n/a
49	chr8:91657290-91657340	GM19239	blood:	n/a
50	chr8:91657290-91657340	HepG2	liver:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90769811..90771678-chr8:91656094..91659219,3	MCF-7	breast:
2	chr8:91656931..91659194-chr8:91950733..91953046,3	MCF-7	breast:
3	chr8:90995523..90999017-chr8:91656346..91659175,4	K562	blood:
4	chr12:120729453..120731946-chr8:91656614..91658294,2	MCF-7	breast:
5	chr18:11850609..11852706-chr8:91655783..91658479,2	MCF-7	breast:
6	chr8:91654622..91657377-chr8:91792859..91795110,2	K562	blood:
7	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
8	chr8:91656166..91658679-chr9:96213011..96215220,2	MCF-7	breast:
9	chr17:58468866..58470563-chr8:91656695..91658244,2	MCF-7	breast:
10	chr8:91656974..91659329-chr8:91869981..91872238,2	MCF-7	breast:
11	chr8:91656618..91662321-chr8:91871461..91875565,6	MCF-7	breast:
12	chr11:95656942..95657484-chr8:91657233..91658084,2	Hela-S3	cervix:
13	chr6:30709563..30710317-chr8:91657123..91658008,2	Hela-S3	cervix:
14	chr8:91657088..91659265-chr8:92082267..92084187,3	K562	blood:
15	chr8:91656709..91659502-chr8:92055238..92057822,3	K562	blood:
16	chr17:58677174..58679477-chr8:91656621..91658384,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246792	TF binding region
ENSG00000246792	CpG island
ENSG00000141371	Chromatin interaction
ENSG00000087053	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000253738	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000123119	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000155100	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000254219	Chromatin interaction
ENSG00000254251	Chromatin interaction
ENSG00000255112	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000170836	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	chr8:91654000-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:91654000-91659200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:91654000-91659400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr8:91654200-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:91654200-91659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:91654400-91657400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:91654400-91659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:91654800-91657800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr8:91655000-91659000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:91655000-91659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:91655200-91658600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:91655200-91658800	Active TSS	Fetal Intestine Large	intestine
14	chr8:91655200-91658800	Active TSS	K562	blood
15	chr8:91655200-91659200	Active TSS	HSMMtube	muscle
16	chr8:91655400-91658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:91655400-91658800	Active TSS	Right Ventricle	heart
18	chr8:91655400-91659000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:91655600-91657800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr8:91655600-91658400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:91655600-91658600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:91655600-91658600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:91655600-91658600	Active TSS	GM12878-XiMat	blood
24	chr8:91655600-91658600	Active TSS	HMEC	breast
25	chr8:91655600-91658800	Active TSS	NHDF-Ad	bronchial
26	chr8:91655600-91659000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr8:91655600-91659000	Active TSS	HSMM	muscle
28	chr8:91655600-91659000	Active TSS	NHLF	lung
29	chr8:91655800-91657400	Active TSS	Placenta	Placenta
30	chr8:91655800-91657400	Active TSS	Stomach Smooth Muscle	stomach
31	chr8:91655800-91658800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:91655800-91658800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr8:91655800-91658800	Active TSS	Fetal Muscle Leg	muscle
34	chr8:91655800-91659000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:91655800-91659000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:91655800-91659000	Active TSS	Psoas Muscle	Psoas
37	chr8:91655800-91659200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:91656000-91657400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr8:91656000-91657400	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr8:91656000-91657400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:91656000-91657400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:91656000-91657400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:91656000-91657800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr8:91656000-91657800	Flanking Active TSS	Liver	Liver
45	chr8:91656000-91657800	Active TSS	Fetal Heart	heart
46	chr8:91656000-91657800	Active TSS	Right Atrium	heart
47	chr8:91656000-91658800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr8:91656000-91658800	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr8:91656000-91658800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:91656000-91658800	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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