Variant report

Variant	rs550262275
Chromosome Location	chr8:8243304-8243305
allele	A/C
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	YY1	chr8:8243067-8243441	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:8241189-8244122	GM12891	blood:	n/a	n/a
3	MAZ	chr8:8242901-8244896	IMR90	lung:	n/a	chr8:8244478-8244486 chr8:8244479-8244490 chr8:8244480-8244489
4	MYC	chr8:8243040-8244118	NB4	blood:	n/a	n/a
5	MAX	chr8:8242999-8244125	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:8243027-8243362	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr8:8242099-8244945	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr8:8243095-8244618	GM19193	blood:	n/a	n/a
9	CTCF	chr8:8243220-8243370	RPTEC	kidney:	n/a	n/a
10	CTCF	chr8:8243160-8243310	WERI-Rb-1	eye:	n/a	n/a
11	TCF7L2	chr8:8243076-8243902	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr8:8243274-8243423	A549	lung:	n/a	n/a
13	GTF2F1	chr8:8243081-8243468	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr8:8242810-8244984	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr8:8243220-8243370	HRPEpiC	eye:	n/a	n/a
16	POLR2A	chr8:8243230-8243634	GM12891	blood:	n/a	n/a
17	SIN3AK20	chr8:8242858-8244068	SK-N-SH	brain:	n/a	n/a
18	MXI1	chr8:8243017-8244055	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr8:8243028-8244087	Hela-S3	cervix:	n/a	n/a
20	CREB1	chr8:8243104-8243510	A549	lung:	n/a	n/a
21	SIN3AK20	chr8:8243282-8244105	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr8:8242958-8243435	H1-hESC	embryonic stem cell:	n/a	n/a
23	EBF1	chr8:8242724-8243450	GM12878	blood:	n/a	chr8:8242971-8242984 chr8:8242944-8242955
24	CHD1	chr8:8243238-8243956	GM12878	blood:	n/a	n/a
25	POLR2A	chr8:8241334-8244104	GM12878	blood:	n/a	n/a
26	MAX	chr8:8242882-8244925	HepG2	liver:	n/a	chr8:8244478-8244486 chr8:8244479-8244490 chr8:8244480-8244489
27	CTCF	chr8:8243160-8243310	GM12871	blood:	n/a	n/a
28	CTCF	chr8:8243300-8243450	HPF	lung:	n/a	n/a
29	CTCF	chr8:8243220-8243370	AG10803	skin:	n/a	n/a
30	ZNF143	chr8:8243088-8243574	GM12878	blood:	n/a	n/a
31	CTCF	chr8:8243180-8243330	HMEC	breast:	n/a	n/a
32	POLR2A	chr8:8243081-8244668	MCF-7	breast:	n/a	n/a
33	POLR2A	chr8:8242993-8244207	GM12878	blood:	n/a	n/a
34	CTCF	chr8:8243200-8243470	GM12868	blood:	n/a	n/a
35	CTCF	chr8:8243300-8243450	HCFaa	heart:	n/a	n/a
36	RAD21	chr8:8242953-8243462	MCF-7	breast:	n/a	n/a
37	POLR2A	chr8:8242588-8244238	GM12878	blood:	n/a	n/a
38	POLR2A	chr8:8242731-8244153	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:8243069-8244892	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr8:8242985-8243483	H1-hESC	embryonic stem cell:	n/a	n/a
41	SMC3	chr8:8243052-8243509	GM12878	blood:	n/a	n/a
42	BCLAF1	chr8:8242654-8244555	GM12878	blood:	n/a	chr8:8243925-8243938 chr8:8244209-8244218 chr8:8244197-8244210 chr8:8243956-8243969
43	MAX	chr8:8242909-8244982	HepG2	liver:	n/a	chr8:8244478-8244486 chr8:8244479-8244490 chr8:8244480-8244489
44	POLR2A	chr8:8242984-8243323	HUVEC	blood vessel:	n/a	n/a
45	MXI1	chr8:8242659-8244128	GM12878	blood:	n/a	n/a
46	CTCF	chr8:8243160-8243310	NB4	blood:	n/a	n/a
47	MAX	chr8:8242914-8244886	A549	lung:	n/a	chr8:8244478-8244486 chr8:8244479-8244490 chr8:8244480-8244489
48	POLR2A	chr8:8243007-8244186	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:8238700-8244933	HepG2	liver:	n/a	n/a
50	POLR2A	chr8:8242993-8244737	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8242378..8243902-chr8:8594357..8596139,2	MCF-7	breast:
2	chr8:8238437..8240547-chr8:8242096..8244614,4	K562	blood:
3	chr8:8235042..8240063-chr8:8240771..8244973,7	MCF-7	breast:
4	chr8:8233939..8236566-chr8:8240658..8243964,3	K562	blood:
5	chr8:8241927..8245169-chr8:8316549..8319625,5	MCF-7	breast:
6	chr8:8242160..8245521-chr8:8318713..8321604,3	MCF-7	breast:
7	chr8:8240682..8243465-chr8:8266165..8269097,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182319	TF binding region
ENSG00000182319	Chromatin interaction
ENSG00000254153	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817196	chr8:8079861-8255544	Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1032259	chr8:8108863-8247113	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
8	nsv1020290	chr8:8108863-8260280	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS 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	15 gene(s)	inside rSNPs	diseases
9	nsv539440	chr8:8108863-8260280	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv831227	chr8:8204838-8367160	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
17	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
18	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	esv3346563	chr8:8242967-8245515	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
21	esv3328926	chr8:8242992-8245190	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 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	chr8:8238800-8243400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:8241200-8243400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:8241200-8243800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr8:8241200-8244400	Active TSS	NHLF	lung
5	chr8:8241200-8244600	Active TSS	Psoas Muscle	Psoas
6	chr8:8241200-8245000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:8241200-8245000	Active TSS	HSMMtube	muscle
8	chr8:8241400-8243400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr8:8241400-8243400	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr8:8241400-8243400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:8241400-8243400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr8:8241400-8243600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr8:8241400-8243600	Bivalent/Poised TSS	HepG2	liver
14	chr8:8241400-8244800	Active TSS	Rectal Smooth Muscle	rectum
15	chr8:8241600-8243400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:8241600-8243600	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr8:8241600-8243800	Flanking Bivalent TSS/Enh	Dnd41	blood
18	chr8:8241600-8244400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:8241600-8245000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr8:8241800-8243600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr8:8241800-8244200	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr8:8241800-8244200	Active TSS	GM12878-XiMat	blood
23	chr8:8241800-8244400	Active TSS	Placenta Amnion	Placenta Amnion
24	chr8:8241800-8244600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:8241800-8244600	Active TSS	A549	lung
26	chr8:8241800-8244800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr8:8241800-8244800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:8241800-8245000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:8241800-8245200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:8241800-8245200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:8242000-8243800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr8:8242000-8244600	Active TSS	Fetal Kidney	kidney
33	chr8:8242000-8245000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:8242000-8245000	Active TSS	Fetal Brain Female	brain
35	chr8:8242000-8245200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr8:8242000-8245400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:8242000-8245400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr8:8242000-8245600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:8242200-8243400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr8:8242200-8243600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr8:8242200-8243600	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr8:8242200-8243800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr8:8242200-8245000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:8242400-8244200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:8242400-8244200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:8242400-8244200	Active TSS	HMEC	breast
47	chr8:8242400-8244400	Active TSS	Esophagus	oesophagus
48	chr8:8242400-8244400	Active TSS	HSMM	muscle
49	chr8:8242400-8244600	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr8:8242400-8244600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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