Variant report

Variant	rs1374601
Chromosome Location	chr8:99953469-99953470
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	MAFK	chr8:99953269-99954127	Hela-S3	cervix:	n/a	n/a
2	ZNF143	chr8:99953219-99953628	Hela-S3	cervix:	n/a	chr8:99953526-99953545 chr8:99953351-99953361
3	GABPA	chr8:99953165-99953653	H1-hESC	embryonic stem cell:	n/a	n/a
4	RUNX3	chr8:99953125-99953628	GM12878	blood:	n/a	n/a
5	MBD4	chr8:99953293-99953775	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:99953217-99954231	PANC-1	pancreas:	n/a	n/a
7	RCOR1	chr8:99953241-99953642	GM12878	blood:	n/a	n/a
8	CTCF	chr8:99953320-99953470	SAEC	small airway:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
9	SIN3AK20	chr8:99953413-99953836	PANC-1	pancreas:	n/a	n/a
10	CTCF	chr8:99953184-99953513	T-47D	breast:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
11	CTCF	chr8:99953148-99953740	H1-hESC	embryonic stem cell:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
12	RAD21	chr8:99953056-99953889	IMR90	lung:	n/a	chr8:99953348-99953360 chr8:99953596-99953610 chr8:99953343-99953362 chr8:99953344-99953358 chr8:99953386-99953399 chr8:99953348-99953358
13	CTCF	chr8:99953177-99953512	T-47D	breast:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
14	POLR2A	chr8:99953199-99953884	HCT-116	colon:	n/a	n/a
15	RAD21	chr8:99953090-99953616	H1-hESC	embryonic stem cell:	n/a	chr8:99953348-99953360 chr8:99953596-99953610 chr8:99953343-99953362 chr8:99953344-99953358 chr8:99953386-99953399 chr8:99953348-99953358
16	POLR2A	chr8:99953325-99953958	MCF-7	breast:	n/a	n/a
17	CTCF	chr8:99953236-99953504	ECC-1	luminal epithelium:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
18	FOXA2	chr8:99953145-99953586	A549	lung:	n/a	n/a
19	TAF1	chr8:99953373-99953852	A549	lung:	n/a	n/a
20	RAD21	chr8:99952999-99953881	ECC-1	luminal epithelium:	n/a	chr8:99953348-99953360 chr8:99953596-99953610 chr8:99953343-99953362 chr8:99953344-99953358 chr8:99953386-99953399 chr8:99953348-99953358
21	EP300	chr8:99953267-99953523	GM12878	blood:	n/a	chr8:99953384-99953400
22	YY1	chr8:99953125-99953509	GM12878	blood:	n/a	chr8:99953304-99953318
23	NRF1	chr8:99953220-99953573	GM12878	blood:	n/a	n/a
24	CTCF	chr8:99953320-99953470	HepG2	liver:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
25	MXI1	chr8:99952777-99954055	HepG2	liver:	n/a	chr8:99952872-99952887
26	MAX	chr8:99953135-99953852	SK-N-SH	brain:	n/a	n/a
27	ZNF143	chr8:99953157-99953581	GM12878	blood:	n/a	chr8:99953526-99953545 chr8:99953351-99953361
28	CTCF	chr8:99953193-99953498	NHEK	skin:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
29	MAX	chr8:99951912-99954770	HepG2	liver:	n/a	chr8:99954267-99954276 chr8:99954560-99954569 chr8:99952868-99952875
30	CTCF	chr8:99953184-99953494	MCF-7	breast:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
31	POLR2A	chr8:99951651-99955069	GM19193	blood:	n/a	n/a
32	RAD21	chr8:99953185-99953773	Hela-S3	cervix:	n/a	chr8:99953348-99953360 chr8:99953596-99953610 chr8:99953343-99953362 chr8:99953344-99953358 chr8:99953386-99953399 chr8:99953348-99953358
33	POLR2A	chr8:99952268-99954173	HepG2	liver:	n/a	n/a
34	HDAC2	chr8:99953097-99953693	H1-hESC	embryonic stem cell:	n/a	chr8:99953412-99953431
35	CTCF	chr8:99953193-99953482	H1-hESC	embryonic stem cell:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
36	CTCF	chr8:99953190-99953486	GM13977	blood:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
37	SUZ12	chr8:99951190-99955729	NT2-D1	testis:	n/a	n/a
38	CTCF	chr8:99953186-99953489	MCF-7	breast:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
39	MAX	chr8:99953407-99953887	SK-N-SH	brain:	n/a	n/a
40	BACH1	chr8:99952263-99955172	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr8:99953195-99953481	Kidney_OC	kidney:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
42	E2F6	chr8:99953149-99953814	A549	lung:	n/a	chr8:99953249-99953258 chr8:99953365-99953377
43	CTCF	chr8:99953173-99953494	Gliobla	brain:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
44	MAX	chr8:99953045-99954496	A549	lung:	n/a	chr8:99954267-99954276
45	CTCF	chr8:99953194-99953495	MCF-7	breast:	n/a	chr8:99953342-99953360 chr8:99953344-99953365 chr8:99953343-99953359 chr8:99953347-99953357 chr8:99953345-99953354 chr8:99953345-99953358 chr8:99953342-99953355
46	RAD21	chr8:99953164-99953831	H1-hESC	embryonic stem cell:	n/a	chr8:99953348-99953360 chr8:99953596-99953610 chr8:99953343-99953362 chr8:99953344-99953358 chr8:99953386-99953399 chr8:99953348-99953358
47	WRNIP1	chr8:99953319-99953736	GM12878	blood:	n/a	n/a
48	ELK1	chr8:99953240-99953775	Hela-S3	cervix:	n/a	n/a
49	EGR1	chr8:99953120-99953542	H1-hESC	embryonic stem cell:	n/a	chr8:99953305-99953318 chr8:99953304-99953319 chr8:99953305-99953318 chr8:99953305-99953315 chr8:99953302-99953316
50	ATF3	chr8:99953212-99953610	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:99952714..99953511-chr8:101138115..101138641,2	MCF-7	breast:
2	chr8:99952140..99962153-chr8:100006475..100015090,25	MCF-7	breast:
3	chr8:99952913..99953621-chr8:100370794..100371379,2	MCF-7	breast:
4	chr8:99947363..99950465-chr8:99951087..99953712,3	K562	blood:
5	chr8:99717523..99718404-chr8:99953348..99953880,2	MCF-7	breast:
6	chr8:99952476..99953694-chr8:100370455..100371470,4	MCF-7	breast:
7	chr8:99952900..99954204-chr8:100009550..100011340,25	MCF-7	breast:
8	chr8:99952911..99954006-chr8:100009839..100011083,7	MCF-7	breast:
9	chr8:99951388..99953620-chr8:100021426..100022985,2	K562	blood:
10	chr8:99953182..99954172-chr8:100024751..100025376,2	MCF-7	breast:
11	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:

Variant related genes	Relation type
OSR2	TF binding region
ENSG00000271930	TF binding region
ENSG00000263842	Chromatin interaction
ENSG00000253948	Chromatin interaction
ENSG00000132549	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17314249	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17373806	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv6327	chr8:99919634-99964563	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr8:99950400-99955600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:99951000-99954400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
3	chr8:99951000-99955800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:99951600-99954000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:99951600-99954200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
6	chr8:99951600-99954400	Active TSS	NHDF-Ad	bronchial
7	chr8:99951600-99954600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
8	chr8:99951600-99955000	Flanking Active TSS	Right Ventricle	heart
9	chr8:99951600-99955000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
10	chr8:99951600-99955200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
11	chr8:99951600-99961600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:99951800-99953800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:99951800-99954000	Flanking Bivalent TSS/Enh	NH-A	brain
14	chr8:99951800-99954000	Flanking Active TSS	NHEK	skin
15	chr8:99951800-99954200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:99951800-99954200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
17	chr8:99951800-99954200	Active TSS	Right Atrium	heart
18	chr8:99951800-99954600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
19	chr8:99951800-99954600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
20	chr8:99951800-99954800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:99951800-99954800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
22	chr8:99951800-99955000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr8:99951800-99955000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:99951800-99955000	Active TSS	Aorta	Aorta
25	chr8:99951800-99955000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
26	chr8:99952000-99953600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr8:99952000-99954000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr8:99952000-99954200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:99952000-99954200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:99952000-99954400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:99952000-99954800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:99952000-99955000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:99952000-99955000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr8:99952000-99955000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
35	chr8:99952000-99955000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
36	chr8:99952000-99955000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
37	chr8:99952000-99955000	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr8:99952000-99955200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr8:99952000-99955200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
40	chr8:99952000-99955200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:99952000-99955200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
42	chr8:99952000-99955200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
43	chr8:99952000-99955200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr8:99952200-99953600	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
45	chr8:99952200-99953800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:99952200-99954200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
47	chr8:99952200-99954200	Active TSS	Psoas Muscle	Psoas
48	chr8:99952200-99954400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
49	chr8:99952200-99954400	Flanking Active TSS	Pancreas	Pancrea
50	chr8:99952200-99954600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet

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