Variant report

Variant	rs2436851
Chromosome Location	chr8:103875613-103875614
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	TCF12	chr8:103874891-103875709	A549	lung:	n/a	n/a
2	SIN3AK20	chr8:103875118-103875646	PANC-1	pancreas:	n/a	n/a
3	ATF2	chr8:103874859-103875685	GM12878	blood:	n/a	n/a
4	SPI1	chr8:103875287-103875638	GM12878	blood:	n/a	n/a
5	ZBTB7A	chr8:103875182-103877006	ECC-1	luminal epithelium:	n/a	chr8:103876422-103876436 chr8:103876813-103876822 chr8:103875649-103875657
6	POLR2A	chr8:103875222-103875838	HepG2	liver:	n/a	n/a
7	MXI1	chr8:103875043-103875650	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr8:103875113-103875784	K562	blood:	n/a	chr8:103875705-103875723 chr8:103875428-103875437
9	POLR2A	chr8:103874545-103875750	HCT-116	colon:	n/a	n/a
10	POLR2A	chr8:103874744-103875851	H1-hESC	embryonic stem cell:	n/a	n/a
11	ETS1	chr8:103875139-103875714	GM12878	blood:	n/a	chr8:103875590-103875601 chr8:103875471-103875478 chr8:103875557-103875568 chr8:103875439-103875452 chr8:103875392-103875403
12	YY1	chr8:103875022-103875615	ECC-1	luminal epithelium:	n/a	chr8:103875592-103875601 chr8:103875549-103875563 chr8:103875313-103875324 chr8:103875392-103875401 chr8:103875595-103875609
13	POLR2A	chr8:103875053-103878061	K562	blood:	n/a	n/a
14	JUND	chr8:103874897-103875840	MCF-7	breast:	n/a	chr8:103875562-103875571 chr8:103875245-103875256 chr8:103875558-103875567
15	TEAD4	chr8:103874310-103875697	K562	blood:	n/a	n/a
16	REST	chr8:103874998-103875674	PFSK-1	brain:	n/a	n/a
17	YY1	chr8:103875096-103875656	GM12891	blood:	n/a	chr8:103875592-103875601 chr8:103875549-103875563 chr8:103875313-103875324 chr8:103875392-103875401 chr8:103875595-103875609
18	TBP	chr8:103874985-103875714	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr8:103874818-103875623	HepG2	liver:	n/a	n/a
20	YY1	chr8:103874979-103876109	SK-N-SH_RA	brain:	n/a	chr8:103875894-103875916 chr8:103875915-103875924 chr8:103875592-103875601 chr8:103875945-103875954 chr8:103875549-103875563 chr8:103875894-103875904 chr8:103875966-103875977 chr8:103875890-103875899 chr8:103875313-103875324 chr8:103875392-103875401 chr8:103875892-103875911 chr8:103875595-103875609
21	CTCF	chr8:103875202-103875680	MCF-7	breast:	n/a	chr8:103875428-103875437
22	SIN3AK20	chr8:103874967-103875732	H1-hESC	embryonic stem cell:	n/a	n/a
23	RELA	chr8:103874902-103875745	GM12891	blood:	n/a	n/a
24	CTCF	chr8:103875263-103875620	GM19240	blood:	n/a	chr8:103875428-103875437
25	POLR2A	chr8:103874998-103877226	ProgFib	skin:	n/a	n/a
26	GATA3	chr8:103874996-103875628	T-47D	breast:	n/a	n/a
27	TBP	chr8:103874663-103877597	K562	blood:	n/a	n/a
28	NFIC	chr8:103875008-103875694	GM12878	blood:	n/a	n/a
29	MTA3	chr8:103874671-103875666	GM12878	blood:	n/a	n/a
30	HDAC2	chr8:103875061-103875616	HepG2	liver:	n/a	n/a
31	JUND	chr8:103875180-103875857	H1-hESC	embryonic stem cell:	n/a	chr8:103875562-103875571 chr8:103875245-103875256 chr8:103875558-103875567
32	CTCF	chr8:103875267-103875763	HepG2	liver:	n/a	chr8:103875705-103875723 chr8:103875428-103875437
33	GATA1	chr8:103874356-103875744	PBDE	blood:	n/a	n/a
34	SIN3AK20	chr8:103875295-103875629	K562	blood:	n/a	n/a
35	CTCF	chr8:103874160-103875863	A549	lung:	n/a	chr8:103875705-103875723 chr8:103875428-103875437
36	MAX	chr8:103874972-103875649	A549	lung:	n/a	n/a
37	PAX5	chr8:103875187-103875740	GM12892	blood:	n/a	n/a
38	GABPA	chr8:103875080-103875822	SK-N-SH	brain:	n/a	chr8:103875557-103875566 chr8:103875741-103875750 chr8:103875451-103875460 chr8:103875449-103875458
39	POLR2A	chr8:103875044-103875850	K562	blood:	n/a	n/a
40	ATF2	chr8:103874486-103875814	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr8:103874987-103875708	GM12878	blood:	n/a	chr8:103875447-103875457
42	POLR2A	chr8:103875073-103877661	Raji	blood:	n/a	n/a
43	MXI1	chr8:103874989-103875697	GM12878	blood:	n/a	n/a
44	POLR2A	chr8:103875103-103877025	HepG2	liver:	n/a	n/a
45	JUND	chr8:103875056-103875695	H1-hESC	embryonic stem cell:	n/a	chr8:103875562-103875571 chr8:103875245-103875256 chr8:103875558-103875567
46	SMARCB1	chr8:103875081-103877060	Hela-S3	cervix:	n/a	n/a
47	MAX	chr8:103875011-103875663	SK-N-SH	brain:	n/a	n/a
48	RAD21	chr8:103874872-103875826	HCT-116	colon:	n/a	chr8:103875632-103875645
49	POLR2A	chr8:103874368-103875732	HepG2	liver:	n/a	n/a
50	POLR2A	chr8:103874620-103875833	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103875223..103878430-chr8:103902326..103905508,3	K562	blood:
2	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
3	chr8:103875472..103877017-chr8:103905100..103906657,2	MCF-7	breast:
4	chr8:103875337..103875971-chr8:104032293..104033157,2	K562	blood:
5	chr8:103249660..103252444-chr8:103873911..103876787,3	K562	blood:
6	chr8:103422749..103426860-chr8:103874401..103878662,6	MCF-7	breast:
7	chr8:103874946..103878144-chr8:103904857..103910279,6	MCF-7	breast:
8	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
9	chr8:103874816..103877664-chr8:103936329..103938732,4	MCF-7	breast:
10	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
11	chr8:103251204..103252824-chr8:103875184..103876837,2	MCF-7	breast:
12	chr8:102216466..102219803-chr8:103875379..103878352,3	K562	blood:
13	chr8:103864345..103865888-chr8:103874121..103876056,2	MCF-7	breast:
14	chr8:103875189..103877224-chr8:103941864..103944592,2	K562	blood:
15	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:
16	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
17	chr8:103838838..103843529-chr8:103874630..103876913,6	K562	blood:
18	chr8:103875054..103878103-chr8:104425943..104429059,5	K562	blood:
19	chr8:103422495..103425381-chr8:103875147..103876814,2	MCF-7	breast:
20	chr8:103875112..103879316-chr8:103972204..103974673,4	MCF-7	breast:
21	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
22	chr8:103873381..103878542-chr8:103897806..103904719,11	MCF-7	breast:
23	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
24	chr8:103875552..103877856-chr8:104031071..104034645,4	K562	blood:
25	chr8:103875112..103878223-chr8:103936319..103939684,4	K562	blood:
26	chr8:103666126..103668691-chr8:103874120..103876148,4	MCF-7	breast:
27	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
28	chr8:103875189..103878093-chr8:103942369..103944654,3	K562	blood:
29	chr7:100470857..100473840-chr8:103875332..103878147,2	K562	blood:
30	chr8:103874799..103876980-chr8:104425955..104427549,2	MCF-7	breast:
31	chr16:57653384..57655758-chr8:103875542..103877439,2	MCF-7	breast:
32	chr8:103839572..103843466-chr8:103874674..103877109,4	K562	blood:
33	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
34	chr8:103874529..103876453-chr8:103970493..103973590,3	K562	blood:
35	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
36	chr8:103845726..103848177-chr8:103872999..103876884,3	K562	blood:
37	chr8:103873561..103877987-chr8:104030387..104035295,15	K562	blood:
38	chr8:103874632..103878836-chr8:104074842..104078968,5	MCF-7	breast:
39	chr8:103421430..103426226-chr8:103872960..103876390,5	K562	blood:
40	chr8:103666551..103669632-chr8:103873253..103876487,4	K562	blood:

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000205336	Chromatin interaction
ENSG00000120963	Chromatin interaction
ENSG00000253263	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000244052	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000265898	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000048392	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1019976	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1062048	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17776569	0.81[ASN][1000 genomes]
rs17776600	0.80[ASN][1000 genomes]
rs1802539	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1806300	0.81[ASN][1000 genomes]
rs1897787	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1982111	0.87[ASN][1000 genomes]
rs1991928	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2247355	0.89[ASN][1000 genomes]
rs2436849	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2436850	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2436854	0.91[EUR][1000 genomes]
rs2436856	0.87[ASN][1000 genomes]
rs2436861	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513876	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2513911	0.85[EUR][1000 genomes]
rs2513912	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513915	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2513917	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2513920	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513923	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513936	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2570941	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2570945	0.87[ASN][1000 genomes]
rs2570951	0.87[ASN][1000 genomes]
rs2570952	0.85[ASN][1000 genomes]
rs2679736	0.87[ASN][1000 genomes]
rs2679737	0.87[ASN][1000 genomes]
rs2679740	0.87[ASN][1000 genomes]
rs2679745	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2679747	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2679750	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2679753	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2916559	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3018943	0.87[ASN][1000 genomes]
rs3018954	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34157576	0.81[ASN][1000 genomes]
rs34352733	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35656046	0.81[ASN][1000 genomes]
rs601088	0.81[ASN][1000 genomes]
rs974758	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv3445834	chr8:103874576-103877824	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103872400-103877200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr8:103872800-103878000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr8:103873000-103876800	Active TSS	Placenta	Placenta
4	chr8:103873000-103877600	Active TSS	GM12878-XiMat	blood
5	chr8:103873000-103877800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr8:103873200-103877400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:103873200-103877400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:103873200-103877400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:103873400-103877200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:103873400-103877200	Active TSS	Pancreas	Pancrea
11	chr8:103873400-103877400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:103873400-103877400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:103873400-103877600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:103873600-103876200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:103873600-103877800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:103873800-103877000	Active TSS	HMEC	breast
17	chr8:103873800-103877400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:103873800-103877600	Active TSS	HSMM	muscle
19	chr8:103873800-103877800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr8:103874000-103877600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:103874200-103876800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr8:103874200-103877400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:103874200-103877400	Active TSS	Right Ventricle	heart
24	chr8:103874200-103877400	Active TSS	NHDF-Ad	bronchial
25	chr8:103874200-103877800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr8:103874200-103877800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:103874400-103876800	Active TSS	Primary T cells fromperipheralblood	blood
28	chr8:103874400-103877000	Active TSS	HSMMtube	muscle
29	chr8:103874400-103877200	Active TSS	Fetal Kidney	kidney
30	chr8:103874400-103877400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:103874400-103877400	Active TSS	Fetal Intestine Large	intestine
32	chr8:103874600-103876800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:103874600-103877000	Active TSS	Stomach Smooth Muscle	stomach
34	chr8:103874600-103877200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:103874600-103877200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:103874600-103877200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:103874600-103877200	Active TSS	Fetal Intestine Small	intestine
38	chr8:103874600-103877400	Active TSS	Psoas Muscle	Psoas
39	chr8:103874600-103877600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:103874600-103877600	Active TSS	Fetal Muscle Trunk	muscle
41	chr8:103874800-103877000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:103874800-103877000	Active TSS	Fetal Muscle Leg	muscle
43	chr8:103874800-103877000	Active TSS	Gastric	stomach
44	chr8:103874800-103877000	Active TSS	NHEK	skin
45	chr8:103874800-103877200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:103874800-103877200	Active TSS	Esophagus	oesophagus
47	chr8:103874800-103877200	Active TSS	Ovary	ovary
48	chr8:103874800-103877200	Active TSS	Placenta Amnion	Placenta Amnion
49	chr8:103874800-103877200	Active TSS	Small Intestine	intestine
50	chr8:103874800-103877200	Active TSS	Thymus	Thymus

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