Variant report

Variant	rs4150842
Chromosome Location	chr8:86089898-86089899
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	GABPA	chr8:86089747-86090340	MCF-7	breast:	n/a	n/a
2	CTBP2	chr8:86089276-86090700	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:86088981-86091052	Hela-S3	cervix:	n/a	n/a
4	ZBTB7A	chr8:86089328-86090234	ECC-1	luminal epithelium:	n/a	chr8:86089630-86089641 chr8:86089625-86089633
5	REST	chr8:86088960-86090525	H1-neurons	neurons:	n/a	n/a
6	MAX	chr8:86089750-86090453	SK-N-SH	brain:	n/a	chr8:86090163-86090172
7	POLR2A	chr8:86089060-86090384	GM15510	blood:	n/a	n/a
8	CTCF	chr8:86089820-86089970	NHLF	lung:	n/a	n/a
9	HNF4G	chr8:86089711-86090307	HepG2	liver:	n/a	chr8:86089914-86089929 chr8:86089914-86089929
10	YY1	chr8:86089896-86090260	K562	blood:	n/a	chr8:86090019-86090038 chr8:86090073-86090092
11	HEY1	chr8:86088962-86090357	HepG2	liver:	n/a	chr8:86089563-86089578
12	MXI1	chr8:86088621-86091242	SK-N-SH	brain:	n/a	n/a
13	EGR1	chr8:86089676-86090133	ECC-1	luminal epithelium:	n/a	chr8:86089909-86089918 chr8:86090056-86090069 chr8:86089906-86089919
14	POLR2A	chr8:86088793-86090419	K562	blood:	n/a	n/a
15	MTA3	chr8:86088970-86091300	GM12878	blood:	n/a	n/a
16	NFIC	chr8:86089769-86090215	HepG2	liver:	n/a	n/a
17	ZEB1	chr8:86089894-86090321	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:86089740-86090318	GM12891	blood:	n/a	n/a
19	POLR2A	chr8:86089737-86090175	HepG2	liver:	n/a	n/a
20	HA-E2F1	chr8:86088931-86090472	MCF-7	breast:	n/a	chr8:86089551-86089560 chr8:86089596-86089605 chr8:86089551-86089563 chr8:86089899-86089908 chr8:86089600-86089610
21	POLR2A	chr8:86088898-86091652	HepG2	liver:	n/a	n/a
22	POLR2A	chr8:86089696-86090749	GM12892	blood:	n/a	n/a
23	CREB1	chr8:86089709-86090299	A549	lung:	n/a	n/a
24	E2F6	chr8:86089172-86090334	Hela-S3	cervix:	n/a	chr8:86089551-86089560 chr8:86089596-86089605 chr8:86089551-86089563 chr8:86089899-86089908 chr8:86089600-86089610
25	USF1	chr8:86089833-86090295	ECC-1	luminal epithelium:	n/a	chr8:86090023-86090034 chr8:86089902-86089918
26	MAX	chr8:86089705-86090526	MCF-7	breast:	n/a	chr8:86090163-86090172
27	E2F6	chr8:86088793-86090366	K562	blood:	n/a	chr8:86089551-86089560 chr8:86089600-86089610 chr8:86089596-86089605 chr8:86089551-86089563 chr8:86089899-86089908
28	TAF1	chr8:86089733-86089922	GM12891	blood:	n/a	n/a
29	POLR2A	chr8:86089033-86090553	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:86089050-86090297	NB4	blood:	n/a	n/a
31	POLR2A	chr8:86089654-86090733	GM12891	blood:	n/a	n/a
32	POLR2A	chr8:86089663-86090370	GM12878	blood:	n/a	n/a
33	RELA	chr8:86088967-86090277	GM19193	blood:	n/a	n/a
34	POLR2A	chr8:86088804-86091163	GM12878	blood:	n/a	n/a
35	CEBPD	chr8:86089629-86090227	HepG2	liver:	n/a	n/a
36	POLR2A	chr8:86088769-86090358	K562	blood:	n/a	n/a
37	MXI1	chr8:86089120-86090589	Hela-S3	cervix:	n/a	n/a
38	MYBL2	chr8:86089792-86090253	HepG2	liver:	n/a	n/a
39	MAX	chr8:86089022-86090451	ECC-1	luminal epithelium:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
40	GTF2F1	chr8:86089730-86090366	H1-hESC	embryonic stem cell:	n/a	n/a
41	RELA	chr8:86088906-86090346	GM19099	blood:	n/a	n/a
42	EP300	chr8:86089872-86089916	GM12878	blood:	n/a	n/a
43	EGR1	chr8:86088971-86090385	HCT-116	colon:	n/a	chr8:86089909-86089918 chr8:86089550-86089560 chr8:86090056-86090069 chr8:86089451-86089464 chr8:86089906-86089919 chr8:86089451-86089464 chr8:86089453-86089463 chr8:86089589-86089599 chr8:86089346-86089355 chr8:86089450-86089465
44	POLR2A	chr8:86089741-86090301	U87	brain:	n/a	n/a
45	USF1	chr8:86089758-86090287	ECC-1	luminal epithelium:	n/a	chr8:86090023-86090034 chr8:86089902-86089918
46	TBP	chr8:86088936-86090326	K562	blood:	n/a	n/a
47	MAX	chr8:86089041-86090428	H1-hESC	embryonic stem cell:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
48	MYC	chr8:86089040-86090389	K562	blood:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
49	TAF1	chr8:86089732-86090166	A549	lung:	n/a	n/a
50	POLR2A	chr8:86089022-86090369	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:149899426..149900366-chr8:86089491..86090377,2	HCT-116	colon:
2	chr8:86088170..86090782-chr8:86116952..86119231,3	MCF-7	breast:
3	chr8:86088356..86092364-chr8:86131123..86134666,8	MCF-7	breast:
4	chr8:86088150..86092119-chr8:86130217..86134794,5	K562	blood:
5	chr8:86016436..86019868-chr8:86087554..86092567,7	K562	blood:
6	chr8:86087523..86090287-chr8:86131220..86133061,4	K562	blood:
7	chr8:86088862..86093405-chr8:86093868..86100908,10	K562	blood:
8	chr8:86089162..86091404-chr8:86126321..86127950,2	MCF-7	breast:
9	chr8:86089844..86092252-chr8:86098327..86100668,2	MCF-7	breast:
10	chr8:86088302..86092423-chr8:86099880..86105553,7	MCF-7	breast:
11	chr8:86089298..86091951-chr8:86118252..86120782,3	MCF-7	breast:
12	chr8:86088315..86091850-chr8:86128947..86134706,9	MCF-7	breast:
13	chr8:82753384..82754969-chr8:86089257..86091516,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf59-1	chr8:86089757-86090033	ENSG00000254208.1

Variant related genes	Relation type
ENSG00000260493	TF binding region
ENSG00000185015	Chromatin interaction
ENSG00000133740	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000176731	Chromatin interaction
ENSG00000133739	Chromatin interaction
ENSG00000104497	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs4150875	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150888	0.94[AFR][1000 genomes]
rs4150892	1.00[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4150899	0.94[AFR][1000 genomes]
rs4150978	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55716338	0.87[AFR][1000 genomes]
rs56000993	0.87[AFR][1000 genomes]
rs56257706	0.88[AFR][1000 genomes]
rs56391532	0.87[AFR][1000 genomes]
rs56696632	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56910369	1.00[AMR][1000 genomes]
rs57413097	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58060795	0.94[AFR][1000 genomes]
rs58078635	0.87[AFR][1000 genomes]
rs58532476	0.87[AFR][1000 genomes]
rs58547590	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61315346	0.87[AFR][1000 genomes]
rs73688676	1.00[AMR][1000 genomes]
rs73688677	1.00[AMR][1000 genomes]
rs73688685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688687	0.87[AFR][1000 genomes]
rs73688689	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688696	0.87[AFR][1000 genomes]
rs73688700	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691803	0.87[AFR][1000 genomes]
rs73691805	0.87[AFR][1000 genomes]
rs73691806	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691808	0.87[AFR][1000 genomes]
rs73691810	0.87[AFR][1000 genomes]
rs73691811	0.87[AFR][1000 genomes]
rs73691812	0.87[AFR][1000 genomes]
rs73691814	0.87[AFR][1000 genomes]
rs73691815	0.87[AFR][1000 genomes]
rs73691817	0.87[AFR][1000 genomes]
rs73691820	0.87[AFR][1000 genomes]
rs73691824	0.87[AFR][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	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1799571	chr8:86064130-86105803	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a
4	esv3401841	chr8:86088225-86091073	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86088600-86090400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr8:86088600-86090600	Active TSS	Fetal Brain Female	brain
3	chr8:86088600-86090800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:86088600-86090800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:86088600-86090800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:86088600-86091000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:86088600-86091000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:86088600-86091600	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:86088800-86090000	Active TSS	Stomach Smooth Muscle	stomach
10	chr8:86088800-86090000	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:86088800-86090200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:86088800-86090200	Active TSS	Fetal Intestine Small	intestine
13	chr8:86088800-86090200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr8:86088800-86090200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr8:86088800-86090200	Active TSS	HUVEC	blood vessel
16	chr8:86088800-86090400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:86088800-86090400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:86088800-86090400	Active TSS	Aorta	Aorta
19	chr8:86088800-86090400	Active TSS	Brain Anterior Caudate	brain
20	chr8:86088800-86090400	Active TSS	Brain Cingulate Gyrus	brain
21	chr8:86088800-86090400	Active TSS	NHDF-Ad	bronchial
22	chr8:86088800-86090600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:86088800-86090600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:86088800-86090600	Active TSS	Brain Substantia Nigra	brain
25	chr8:86088800-86090600	Active TSS	Colonic Mucosa	Colon
26	chr8:86088800-86090600	Active TSS	Fetal Brain Male	brain
27	chr8:86088800-86090600	Active TSS	Fetal Intestine Large	intestine
28	chr8:86088800-86090600	Active TSS	Psoas Muscle	Psoas
29	chr8:86088800-86090600	Active TSS	Right Atrium	heart
30	chr8:86088800-86090800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr8:86088800-86090800	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr8:86088800-86090800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:86088800-86090800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:86088800-86090800	Active TSS	Brain Germinal Matrix	brain
35	chr8:86088800-86090800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:86088800-86090800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:86088800-86090800	Active TSS	Fetal Muscle Trunk	muscle
38	chr8:86088800-86090800	Active TSS	Fetal Stomach	stomach
39	chr8:86088800-86090800	Active TSS	HSMMtube	muscle
40	chr8:86088800-86091000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr8:86089000-86090000	Active TSS	Spleen	Spleen
42	chr8:86089000-86090200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:86089000-86090200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:86089000-86090200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:86089000-86090200	Active TSS	Placenta	Placenta
46	chr8:86089000-86090200	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr8:86089000-86090400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:86089000-86090400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:86089000-86090400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:86089000-86090400	Active TSS	Brain Angular Gyrus	brain

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