Variant report

Variant	rs13256406
Chromosome Location	chr8:120220148-120220149
allele	C/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	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
2	NR2F2	chr8:120219815-120220778	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:120220143-120220519	Hela-S3	cervix:	n/a	n/a
4	E2F1	chr8:120219988-120221009	Hela-S3	cervix:	n/a	chr8:120220285-120220299 chr8:120220523-120220532
5	SMARCB1	chr8:120219945-120222244	Hela-S3	cervix:	n/a	chr8:120220236-120220245 chr8:120220112-120220121
6	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
7	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
8	CHD2	chr8:120220127-120220591	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr8:120220107-120220620	ECC-1	luminal epithelium:	n/a	chr8:120220436-120220456
10	MAX	chr8:120220063-120220641	H1-hESC	embryonic stem cell:	n/a	chr8:120220112-120220121 chr8:120220543-120220552 chr8:120220545-120220554 chr8:120220544-120220555
11	SMC3	chr8:120219944-120220582	Hela-S3	cervix:	n/a	n/a
12	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
13	RCOR1	chr8:120220017-120220599	Hela-S3	cervix:	n/a	n/a
14	FOS	chr8:120218933-120220478	MCF10A-Er-Src	breast:	n/a	chr8:120219365-120219375 chr8:120220111-120220121 chr8:120219365-120219375 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120219365-120219375 chr8:120220236-120220244
15	POLR2A	chr8:120219852-120222242	HCT-116	colon:	n/a	n/a
16	SIN3AK20	chr8:120219146-120222455	MCF-7	breast:	n/a	n/a
17	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
18	CTCF	chr8:120220080-120220230	HEEpiC	esophagus:	n/a	n/a
19	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
20	FOS	chr8:120218994-120220201	MCF10A-Er-Src	breast:	n/a	chr8:120219365-120219375 chr8:120220111-120220121 chr8:120219365-120219375 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120219365-120219375
21	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
22	GTF2F1	chr8:120220044-120220487	Hela-S3	cervix:	n/a	n/a
23	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
24	BACH1	chr8:120219974-120220620	H1-hESC	embryonic stem cell:	n/a	n/a
25	MXI1	chr8:120220120-120220613	Hela-S3	cervix:	n/a	chr8:120220546-120220555
26	SIN3A	chr8:120220082-120222212	H1-hESC	embryonic stem cell:	n/a	chr8:120220414-120220427 chr8:120220411-120220420 chr8:120220544-120220553 chr8:120220531-120220544
27	POLR2A	chr8:120220148-120222379	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZEB1	chr8:120220140-120220627	GM12878	blood:	n/a	chr8:120220482-120220494 chr8:120220483-120220494 chr8:120220533-120220545 chr8:120220535-120220542
29	GATA3	chr8:120219001-120220649	MCF-7	breast:	n/a	chr8:120220110-120220117
30	ZKSCAN1	chr8:120219282-120220624	Hela-S3	cervix:	n/a	n/a
31	FOS	chr8:120219964-120220643	MCF10A-Er-Src	breast:	n/a	chr8:120220111-120220121 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120220236-120220244
32	POLR2A	chr8:120220031-120221521	MCF-7	breast:	n/a	n/a
33	TCF7L2	chr8:120219880-120220577	Hela-S3	cervix:	n/a	chr8:120220111-120220120
34	USF1	chr8:120219850-120222199	HCT-116	colon:	n/a	chr8:120220095-120220111
35	ZEB1	chr8:120220031-120220646	HepG2	liver:	n/a	chr8:120220482-120220494 chr8:120220483-120220494 chr8:120220533-120220545 chr8:120220535-120220542
36	POLR2A	chr8:120218818-120224415	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr8:120219146-120222127	MCF10A-Er-Src	breast:	n/a	n/a
38	JUND	chr8:120220117-120220492	H1-hESC	embryonic stem cell:	n/a	chr8:120220236-120220244
39	E2F6	chr8:120220069-120221725	H1-hESC	embryonic stem cell:	n/a	chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532 chr8:120221309-120221321
40	MYC	chr8:120220057-120220193	MCF-7	breast:	n/a	chr8:120220112-120220121
41	USF1	chr8:120220036-120220807	ECC-1	luminal epithelium:	n/a	chr8:120220095-120220111
42	SIN3AK20	chr8:120219964-120222214	MCF-7	breast:	n/a	n/a
43	POLR2A	chr8:120219946-120221592	MCF-7	breast:	n/a	n/a
44	MAX	chr8:120219892-120221820	ECC-1	luminal epithelium:	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
45	MAX	chr8:120220009-120221967	ECC-1	luminal epithelium:	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
46	MAX	chr8:120219824-120222382	MCF-7	breast:	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
47	POLR2A	chr8:120220137-120221499	HCT-116	colon:	n/a	n/a
48	USF1	chr8:120220134-120220778	ECC-1	luminal epithelium:	n/a	n/a
49	FOSL1	chr8:120218876-120220707	HCT-116	colon:	n/a	chr8:120219365-120219375 chr8:120220111-120220121 chr8:120219365-120219375 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120219365-120219375 chr8:120220236-120220244
50	FOS	chr8:120220107-120220590	MCF10A-Er-Src	breast:	n/a	chr8:120220111-120220121 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120220236-120220244

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:120220131-120220181	HPAEpiC	pulmonary alveolar:	n/a
2	chr8:120220131-120220181	Caco-2	colon:	n/a
3	chr8:120220131-120220181	PANC-1	pancreas:	n/a
4	chr8:120220131-120220181	SKMC	muscle:	n/a
5	chr8:120220131-120220181	Jurkat	blood:	n/a
6	chr8:120220131-120220181	MCF10A-Er-Src	breast:	n/a
7	chr8:120220131-120220181	HCPEpiC	choroid plexus:	n/a
8	chr8:120220131-120220181	SAEC	small airway:	n/a
9	chr8:120220131-120220181	AG04450	lung:	fetal
10	chr8:120220131-120220181	HEK293	kidney:	embryo
11	chr8:120220131-120220181	NT2-D1	testis:	n/a
12	chr8:120220131-120220181	ProgFib	skin:	n/a
13	chr8:120220131-120220181	HRE	kidney:	n/a
14	chr8:120220131-120220181	NHDF-neo	bronchial:	n/a
15	chr8:120220131-120220181	HNPCEpiC	eye:	n/a
16	chr8:120220131-120220181	HCM	heart:	n/a
17	chr8:120220131-120220181	GM06990	blood:	n/a
18	chr8:120220131-120220181	BJ	skin:	n/a
19	chr8:120220131-120220181	ovcar-3	ovarian:	n/a
20	chr8:120220131-120220181	SK-N-SH_RA	brain:	n/a
21	chr8:120220131-120220181	GM12878	blood:	n/a
22	chr8:120220131-120220181	SK-N-MC	brain:	n/a
23	chr8:120220131-120220181	BE2_C	brain:	n/a
24	chr8:120220131-120220181	K562	blood:	n/a
25	chr8:120220131-120220181	CMK	blood:	n/a
26	chr8:120220131-120220181	AG10803	skin:	n/a
27	chr8:120220131-120220181	HCT-116	colon:	n/a
28	chr8:120220131-120220181	H1-hESC	embryonic stem cell:	embryo
29	chr8:120220131-120220181	AG09309	skin:	n/a
30	chr8:120220131-120220181	RPTEC	kidney:	n/a
31	chr8:120220131-120220181	MCF-7	breast:	n/a
32	chr8:120220131-120220181	IMR90	lung:	fetal
33	chr8:120220131-120220181	HAEpiC	amniotic membrane:	n/a
34	chr8:120220131-120220181	AoSMC	blood vessel:	n/a
35	chr8:120220131-120220181	NB4	blood:	n/a
36	chr8:120220131-120220181	HCF	heart:	n/a
37	chr8:120220131-120220181	HUVEC	blood vessel:	n/a
38	chr8:120220131-120220181	NH-A	brain:	n/a
39	chr8:120220131-120220181	AG04449	skin:	fetal
40	chr8:120220131-120220181	HMEC	breast:	n/a
41	chr8:120220131-120220181	HEEpiC	esophagus:	n/a
42	chr8:120220131-120220181	HepG2	liver:	n/a
43	chr8:120220131-120220181	A549	lung:	n/a
44	chr8:120220131-120220181	AG09319	gingival:	n/a
45	chr8:120220131-120220181	PFSK-1	brain:	n/a
46	chr8:120220131-120220181	PrEC	prostate:	n/a
47	chr8:120220131-120220181	Hela-S3	cervix:	n/a
48	chr8:120220131-120220181	HRCEpiC	kidney:	n/a
49	chr8:120220131-120220181	HL-60	blood:	n/a
50	chr8:120220131-120220181	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:43483317..43484109-chr8:120219923..120220769,2	Hela-S3	cervix:
2	chr17:56707810..56710447-chr8:120218962..120221628,2	MCF-7	breast:
3	chr17:57923593..57925811-chr8:120219201..120221264,2	MCF-7	breast:

Variant related genes	Relation type
MAL2	TF binding region
MAL2	CpG island
ENSG00000151881	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12675172	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12677274	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12677951	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13261795	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13262685	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13269824	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13281087	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1346014	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1364705	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871600	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986732	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs929953	0.87[ASN][1000 genomes]

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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120218800-120220400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:120218800-120221600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr8:120219000-120220200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:120219000-120220400	Flanking Active TSS	NHEK	skin
5	chr8:120219000-120221600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:120219200-120220800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr8:120219400-120220400	Flanking Active TSS	Hela-S3	cervix
8	chr8:120219600-120220200	Flanking Active TSS	HMEC	breast
9	chr8:120219600-120220400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr8:120219600-120222200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:120219800-120220200	Bivalent Enhancer	Fetal Brain Male	brain
12	chr8:120219800-120220200	Bivalent Enhancer	Fetal Heart	heart
13	chr8:120219800-120220200	Bivalent Enhancer	Small Intestine	intestine
14	chr8:120219800-120220400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:120219800-120220400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:120219800-120220400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:120219800-120220400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
18	chr8:120219800-120220400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr8:120219800-120221400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr8:120219800-120221400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:120219800-120221600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:120219800-120222000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
23	chr8:120219800-120222200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr8:120220000-120220200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:120220000-120220200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr8:120220000-120220200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:120220000-120220200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr8:120220000-120220200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:120220000-120220200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:120220000-120220200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:120220000-120220200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:120220000-120220200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr8:120220000-120220200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:120220000-120220200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr8:120220000-120220200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:120220000-120220200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:120220000-120220200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:120220000-120220200	Enhancers	Adipose Nuclei	Adipose
39	chr8:120220000-120220200	Bivalent Enhancer	Fetal Lung	lung
40	chr8:120220000-120220200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr8:120220000-120220200	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr8:120220000-120220200	Enhancers	Left Ventricle	heart
43	chr8:120220000-120220200	Active TSS	Rectal Smooth Muscle	rectum
44	chr8:120220000-120220200	Active TSS	Right Ventricle	heart
45	chr8:120220000-120220200	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
46	chr8:120220000-120220200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
47	chr8:120220000-120220400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr8:120220000-120220400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:120220000-120220400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:120220000-120220400	Flanking Active TSS	Liver	Liver

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