Variant report

Variant	rs550517556
Chromosome Location	chr8:120221029-120221030
allele	C/T
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	E2F6	chr8:120220257-120221626	Hela-S3	cervix:	n/a	chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532 chr8:120221309-120221321
2	MAX	chr8:120220108-120221698	H1-hESC	embryonic stem cell:	n/a	chr8:120220112-120220121 chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120220545-120220554 chr8:120220544-120220555
3	GTF2F1	chr8:120220963-120221036	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr8:120220153-120221133	H1-neurons	neurons:	n/a	chr8:120220878-120220891 chr8:120220606-120220624 chr8:120220436-120220456
5	MXI1	chr8:120220939-120222417	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr8:120220170-120221672	ECC-1	luminal epithelium:	n/a	n/a
7	SMARCB1	chr8:120219945-120222244	Hela-S3	cervix:	n/a	chr8:120220236-120220245 chr8:120220112-120220121
8	MAX	chr8:120219979-120221795	H1-hESC	embryonic stem cell:	n/a	chr8:120220112-120220121 chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555
9	CHD2	chr8:120220227-120222229	Hela-S3	cervix:	n/a	chr8:120221152-120221159 chr8:120220587-120220597 chr8:120221047-120221057
10	MAX	chr8:120219811-120222334	HCT-116	colon:	n/a	chr8:120220112-120220121 chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555
11	EP300	chr8:120220999-120221529	T-47D	breast:	n/a	chr8:120221092-120221108
12	TCF12	chr8:120220813-120221526	ECC-1	luminal epithelium:	n/a	chr8:120221046-120221056
13	YY1	chr8:120220834-120221447	H1-hESC	embryonic stem cell:	n/a	chr8:120221237-120221245 chr8:120221234-120221244
14	MAX	chr8:120220787-120222136	MCF-7	breast:	n/a	chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120221754-120221763
15	MAX	chr8:120220134-120222309	HepG2	liver:	n/a	chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555
16	GATA3	chr8:120220694-120222159	MCF-7	breast:	n/a	n/a
17	HA-E2F1	chr8:120220213-120221220	Hela-S3	cervix:	n/a	chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532
18	ZBTB7A	chr8:120220720-120221193	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr8:120219852-120222242	HCT-116	colon:	n/a	n/a
20	POLR2A	chr8:120220896-120221033	HepG2	liver:	n/a	n/a
21	YY1	chr8:120220647-120221740	ECC-1	luminal epithelium:	n/a	chr8:120221237-120221245 chr8:120221234-120221244
22	JUND	chr8:120220962-120221122	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3AK20	chr8:120219146-120222455	MCF-7	breast:	n/a	n/a
24	SMARCC1	chr8:120220837-120221625	Hela-S3	cervix:	n/a	n/a
25	ELF1	chr8:120220947-120222023	MCF-7	breast:	n/a	chr8:120221326-120221337
26	E2F6	chr8:120219850-120222354	H1-hESC	embryonic stem cell:	n/a	chr8:120221998-120222007 chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532 chr8:120221309-120221321
27	TCF7L2	chr8:120220826-120222139	Hela-S3	cervix:	n/a	chr8:120221866-120221880
28	RCOR1	chr8:120220979-120222264	Hela-S3	cervix:	n/a	n/a
29	CREB1	chr8:120220956-120221222	A549	lung:	n/a	n/a
30	EGR1	chr8:120219813-120221721	HCT-116	colon:	n/a	chr8:120220122-120220136 chr8:120221307-120221317 chr8:120220124-120220134 chr8:120220124-120220134 chr8:120221304-120221317 chr8:120221553-120221562 chr8:120220118-120220140 chr8:120220935-120220945
31	MAX	chr8:120219795-120222312	HCT-116	colon:	n/a	chr8:120220112-120220121 chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555
32	POLR2A	chr8:120221002-120221749	Hela-S3	cervix:	n/a	n/a
33	HA-E2F1	chr8:120219870-120222214	MCF-7	breast:	n/a	chr8:120221998-120222007 chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532 chr8:120221309-120221321
34	BHLHE40	chr8:120220165-120222098	HepG2	liver:	n/a	n/a
35	YY1	chr8:120220668-120221690	ECC-1	luminal epithelium:	n/a	chr8:120221237-120221245 chr8:120221234-120221244
36	YY1	chr8:120220412-120221495	HepG2	liver:	n/a	chr8:120221237-120221245 chr8:120221234-120221244
37	GATA3	chr8:120220834-120222176	MCF-7	breast:	n/a	n/a
38	GATA3	chr8:120221019-120222095	MCF-7	breast:	n/a	n/a
39	POLR2A	chr8:120220157-120221497	ECC-1	luminal epithelium:	n/a	n/a
40	NR2F2	chr8:120220854-120222234	MCF-7	breast:	n/a	n/a
41	TBP	chr8:120220308-120222139	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr8:120220813-120222220	H1-hESC	embryonic stem cell:	n/a	n/a
43	MXI1	chr8:120220896-120222251	HepG2	liver:	n/a	n/a
44	SIN3A	chr8:120220082-120222212	H1-hESC	embryonic stem cell:	n/a	chr8:120220414-120220427 chr8:120220411-120220420 chr8:120220544-120220553 chr8:120220531-120220544
45	POLR2A	chr8:120220148-120222379	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr8:120220757-120221724	H1-hESC	embryonic stem cell:	n/a	n/a
47	YY1	chr8:120220743-120221733	H1-hESC	embryonic stem cell:	n/a	chr8:120221237-120221245 chr8:120221234-120221244
48	YY1	chr8:120220882-120221676	HCT-116	colon:	n/a	chr8:120221237-120221245 chr8:120221234-120221244
49	POLR2A	chr8:120220031-120221521	MCF-7	breast:	n/a	n/a
50	MAZ	chr8:120220265-120222201	Hela-S3	cervix:	n/a	chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56707810..56710447-chr8:120218962..120221628,2	MCF-7	breast:
2	chr17:57923593..57925811-chr8:120219201..120221264,2	MCF-7	breast:

Variant related genes	Relation type
MAL2	TF binding region
ENSG00000201524	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3394135	chr8:120219596-120222144	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120218800-120221600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr8:120219000-120221600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:120219600-120222200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:120219800-120221400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:120219800-120221400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:120219800-120221600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:120219800-120222000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr8:120219800-120222200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:120220000-120221200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:120220000-120221200	Bivalent/Poised TSS	Colonic Mucosa	Colon
11	chr8:120220000-120221400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr8:120220000-120221400	Active TSS	Esophagus	oesophagus
13	chr8:120220000-120221400	Bivalent/Poised TSS	A549	lung
14	chr8:120220000-120221600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:120220000-120222000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:120220000-120222000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
17	chr8:120220000-120222200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:120220000-120222200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
19	chr8:120220000-120222400	Bivalent/Poised TSS	Fetal Kidney	kidney
20	chr8:120220200-120221200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:120220200-120221200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:120220200-120221200	Active TSS	Left Ventricle	heart
23	chr8:120220200-120221400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:120220200-120221400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr8:120220200-120221600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
26	chr8:120220200-120221600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
27	chr8:120220200-120221600	ZNF genes & repeats	Spleen	Spleen
28	chr8:120220200-120221800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:120220200-120222000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr8:120220200-120222000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
31	chr8:120220200-120222000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr8:120220200-120222400	Active TSS	Gastric	stomach
33	chr8:120220400-120221200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr8:120220400-120221200	Bivalent/Poised TSS	Psoas Muscle	Psoas
35	chr8:120220400-120221200	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr8:120220400-120221200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr8:120220400-120221200	Active TSS	NHEK	skin
38	chr8:120220400-120221400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:120220400-120221400	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr8:120220400-120221400	Active TSS	Liver	Liver
41	chr8:120220400-120221400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
42	chr8:120220400-120221400	Active TSS	Hela-S3	cervix
43	chr8:120220400-120221600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr8:120220400-120221600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
45	chr8:120220400-120221800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
46	chr8:120220400-120221800	Active TSS	Placenta Amnion	Placenta Amnion
47	chr8:120220400-120222000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
48	chr8:120220400-120222200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:120220400-120222200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
50	chr8:120220400-120222200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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