Variant report

Variant	rs2436865
Chromosome Location	chr8:103818770-103818771
allele	A/C
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	SIN3AK20	chr8:103818400-103820003	SK-N-SH	brain:	n/a	n/a
2	RXRA	chr8:103818119-103820335	SK-N-SH	brain:	n/a	chr8:103818682-103818689
3	HEY1	chr8:103818360-103820243	HepG2	liver:	n/a	chr8:103819810-103819819
4	FOXA2	chr8:103818018-103819381	A549	lung:	n/a	n/a
5	NR3C1	chr8:103818253-103819412	A549	lung:	n/a	n/a
6	EP300	chr8:103818203-103820140	SK-N-SH	brain:	n/a	chr8:103819902-103819918 chr8:103818809-103818825
7	EP300	chr8:103818190-103820206	ECC-1	luminal epithelium:	n/a	chr8:103819902-103819918 chr8:103818809-103818825
8	POLR2A	chr8:103818354-103819559	K562	blood:	n/a	n/a
9	RCOR1	chr8:103818247-103821568	K562	blood:	n/a	n/a
10	IRF1	chr8:103818530-103819311	K562	blood:	n/a	chr8:103818775-103818789 chr8:103818804-103818818
11	POLR2A	chr8:103818383-103820269	ProgFib	skin:	n/a	n/a
12	REST	chr8:103818713-103819313	SK-N-SH	brain:	n/a	chr8:103818998-103819011 chr8:103818819-103818832
13	CHD2	chr8:103818482-103820307	HepG2	liver:	n/a	chr8:103818566-103818576 chr8:103818782-103818792 chr8:103818806-103818816
14	POLR2A	chr8:103818503-103819950	GM12891	blood:	n/a	n/a
15	YY1	chr8:103818476-103819390	GM12878	blood:	n/a	chr8:103818776-103818785 chr8:103818987-103819001 chr8:103819006-103819020 chr8:103818795-103818809 chr8:103818818-103818832
16	EP300	chr8:103818353-103819342	HepG2	liver:	n/a	chr8:103818809-103818825
17	BHLHE40	chr8:103818300-103820277	K562	blood:	n/a	chr8:103819811-103819820 chr8:103818810-103818826 chr8:103818754-103818770 chr8:103818997-103819013 chr8:103818998-103819014 chr8:103818775-103818791
18	USF1	chr8:103818397-103818888	A549	lung:	n/a	chr8:103818810-103818826 chr8:103818754-103818770 chr8:103818775-103818791
19	POLR2A	chr8:103818068-103820184	GM12892	blood:	n/a	n/a
20	JUND	chr8:103818074-103820412	A549	lung:	n/a	chr8:103819044-103819055 chr8:103818845-103818856 chr8:103819102-103819113 chr8:103818780-103818789
21	MYC	chr8:103818244-103820107	NB4	blood:	n/a	chr8:103818616-103818627 chr8:103819610-103819619 chr8:103818617-103818626 chr8:103818777-103818787 chr8:103819610-103819620 chr8:103819608-103819623 chr8:103818617-103818626 chr8:103818616-103818627 chr8:103818617-103818627 chr8:103819694-103819704 chr8:103819610-103819619 chr8:103818618-103818625 chr8:103819611-103819618
22	POLR2A	chr8:103818339-103820143	GM15510	blood:	n/a	n/a
23	POLR2A	chr8:103817955-103821905	PANC-1	pancreas:	n/a	n/a
24	CREB1	chr8:103818520-103819338	A549	lung:	n/a	n/a
25	RELA	chr8:103818264-103820066	GM19193	blood:	n/a	n/a
26	NR2F2	chr8:103818229-103820122	MCF-7	breast:	n/a	n/a
27	FOXM1	chr8:103818442-103820073	SK-N-SH	brain:	n/a	n/a
28	USF1	chr8:103818441-103819334	SK-N-SH_RA	brain:	n/a	chr8:103818810-103818826 chr8:103818754-103818770 chr8:103818997-103819013 chr8:103818998-103819014 chr8:103818775-103818791
29	STAT1	chr8:103818276-103819081	K562	blood:	n/a	chr8:103818804-103818816 chr8:103818779-103818791 chr8:103818516-103818524
30	CBX3	chr8:103818119-103820123	K562	blood:	n/a	n/a
31	ELF1	chr8:103818519-103819623	K562	blood:	n/a	chr8:103818790-103818802 chr8:103818820-103818832
32	SMC3	chr8:103818724-103818860	K562	blood:	n/a	n/a
33	NFIC	chr8:103818338-103818913	GM12878	blood:	n/a	n/a
34	RELA	chr8:103818054-103820046	GM12891	blood:	n/a	n/a
35	REST	chr8:103818439-103819372	HepG2	liver:	n/a	chr8:103818998-103819011 chr8:103818819-103818832
36	JUND	chr8:103818288-103819480	SK-N-SH	brain:	n/a	chr8:103819044-103819055 chr8:103818845-103818856 chr8:103819102-103819113 chr8:103818780-103818789
37	FOXA1	chr8:103818652-103819060	T-47D	breast:	n/a	n/a
38	FOXA1	chr8:103818317-103819287	HepG2	liver:	n/a	n/a
39	JUN	chr8:103817951-103820172	K562	blood:	n/a	chr8:103819044-103819055 chr8:103818845-103818856 chr8:103818780-103818789
40	SIN3AK20	chr8:103818744-103819374	PANC-1	pancreas:	n/a	n/a
41	YY1	chr8:103818411-103819388	HCT-116	colon:	n/a	chr8:103818776-103818785 chr8:103818987-103819001 chr8:103819006-103819020 chr8:103818795-103818809 chr8:103818818-103818832
42	TCF7L2	chr8:103818158-103821127	Hela-S3	cervix:	n/a	chr8:103820382-103820392 chr8:103818425-103818441 chr8:103820379-103820393 chr8:103820381-103820390 chr8:103820817-103820827 chr8:103818429-103818438 chr8:103820378-103820394 chr8:103820817-103820824 chr8:103820378-103820394
43	ATF3	chr8:103818179-103820135	A549	lung:	n/a	chr8:103818773-103818782 chr8:103818873-103818886 chr8:103818636-103818644
44	USF1	chr8:103818400-103818965	SK-N-SH	brain:	n/a	chr8:103818810-103818826 chr8:103818754-103818770 chr8:103818775-103818791
45	EP300	chr8:103818472-103820210	MCF-7	breast:	n/a	chr8:103819902-103819918 chr8:103818809-103818825
46	GABPA	chr8:103818427-103819312	A549	lung:	n/a	n/a
47	POLR2A	chr8:103818436-103820336	GM12892	blood:	n/a	n/a
48	PAX5	chr8:103818639-103818983	GM12892	blood:	n/a	n/a
49	POLR2A	chr8:103818305-103820224	MCF-7	breast:	n/a	n/a
50	MAFK	chr8:103818466-103821137	Hela-S3	cervix:	n/a	chr8:103818842-103818851 chr8:103819103-103819118

No.	Distal block	Cell Line	Cell type
1	chr8:103817310..103819555-chr8:144690473..144693447,2	MCF-7	breast:
2	chr19:8385776..8387962-chr8:103817947..103819696,2	MCF-7	breast:
3	chr8:103817518..103820621-chr8:103884137..103887437,3	MCF-7	breast:
4	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
5	chr22:26878870..26880742-chr8:103818199..103820468,2	MCF-7	breast:
6	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
7	chr8:103667505..103668484-chr8:103818650..103819608,4	MCF-7	breast:
8	chr11:62607921..62609557-chr8:103817365..103819306,2	MCF-7	breast:
9	chr8:103267417..103268998-chr8:103817417..103819784,2	MCF-7	breast:
10	chr3:49058624..49059288-chr8:103818461..103819229,2	Hela-S3	cervix:
11	chr8:103666370..103667135-chr8:103818610..103819735,3	MCF-7	breast:
12	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
13	chr8:103669664..103670176-chr8:103818037..103818965,2	MCF-7	breast:
14	chr8:103740249..103747213-chr8:103818698..103822838,8	MCF-7	breast:
15	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
16	chr17:56707890..56710691-chr8:103818055..103819767,2	MCF-7	breast:
17	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
18	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
19	chr17:57182576..57184136-chr8:103818187..103820992,2	MCF-7	breast:
20	chr8:103250357..103253420-chr8:103818570..103821747,5	MCF-7	breast:
21	chr8:103667409..103668879-chr8:103818175..103819938,6	MCF-7	breast:
22	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
23	chr8:103818457..103821260-chr9:4985022..4986557,2	MCF-7	breast:
24	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
25	chr1:37938067..37940901-chr8:103817766..103821632,3	MCF-7	breast:
26	chr8:103251230..103254364-chr8:103817398..103821115,5	K562	blood:
27	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
28	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
29	chr8:103665986..103666630-chr8:103818157..103818981,2	MCF-7	breast:
30	chr8:103818007..103820586-chr9:131474498..131476310,2	MCF-7	breast:
31	chr8:102503544..102506939-chr8:103817000..103821587,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	TF binding region
ENSG00000096968	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000267855	Chromatin interaction
ENSG00000100099	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000160447	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000233927	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000100104	Chromatin interaction
ENSG00000104524	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000272037	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000266799	Chromatin interaction
ENSG00000167774	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10808382	0.95[EUR][1000 genomes]
rs1138	0.87[EUR][1000 genomes]
rs1434235	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1991927	0.93[EUR][1000 genomes]
rs2117313	0.95[EUR][1000 genomes]
rs2164061	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2256440	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2304346	0.94[EUR][1000 genomes]
rs2436844	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2436846	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2436847	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2436848	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2436857	0.95[EUR][1000 genomes]
rs2513898	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513910	0.89[EUR][1000 genomes]
rs2513913	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513916	0.92[EUR][1000 genomes]
rs2513918	0.93[EUR][1000 genomes]
rs2513919	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2513921	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2513922	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2513935	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2570939	0.93[EUR][1000 genomes]
rs2570942	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2570944	0.88[EUR][1000 genomes]
rs2679746	0.93[EUR][1000 genomes]
rs2679748	0.93[EUR][1000 genomes]
rs2679749	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2679751	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2679752	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2679754	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2679755	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2679756	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2679757	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2679758	0.88[EUR][1000 genomes]
rs2916564	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3018956	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34655485	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6921	0.94[EUR][1000 genomes]
rs892484	0.89[EUR][1000 genomes]
rs892486	0.86[EUR][1000 genomes]
rs972142	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs974759	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	esv3387271	chr8:103818001-103820749	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2436865	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103809600-103819400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:103815600-103818800	Enhancers	Primary T cells from cord blood	blood
3	chr8:103816000-103819200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr8:103816400-103819200	Enhancers	Primary B cells from cord blood	blood
5	chr8:103816800-103818800	Enhancers	Fetal Heart	heart
6	chr8:103816800-103818800	Enhancers	Stomach Mucosa	stomach
7	chr8:103816800-103822400	Enhancers	Spleen	Spleen
8	chr8:103817000-103819200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:103817200-103822800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:103817600-103818800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:103818000-103818800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:103818000-103818800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:103818000-103818800	Flanking Active TSS	Colonic Mucosa	Colon
14	chr8:103818000-103818800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr8:103818000-103818800	Flanking Active TSS	NH-A	brain
16	chr8:103818200-103818800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:103818200-103818800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:103818200-103818800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:103818200-103818800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr8:103818200-103818800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr8:103818200-103818800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:103818200-103818800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr8:103818200-103818800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:103818200-103818800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:103818200-103818800	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr8:103818200-103818800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr8:103818200-103818800	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr8:103818200-103818800	Flanking Active TSS	Fetal Stomach	stomach
29	chr8:103818200-103818800	Flanking Active TSS	Dnd41	blood
30	chr8:103818200-103819800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr8:103818200-103820200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr8:103818200-103821200	Enhancers	Fetal Brain Male	brain
33	chr8:103818400-103818800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr8:103818400-103818800	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr8:103818400-103818800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr8:103818400-103818800	Enhancers	Primary hematopoietic stem cells	blood
37	chr8:103818400-103818800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:103818400-103818800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:103818400-103818800	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr8:103818400-103818800	Flanking Active TSS	Placenta	Placenta
41	chr8:103818400-103818800	Flanking Active TSS	Fetal Thymus	thymus
42	chr8:103818400-103818800	Flanking Active TSS	HMEC	breast
43	chr8:103818400-103819000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:103818400-103819200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:103818400-103819400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr8:103818400-103819400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:103818400-103819400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr8:103818400-103819400	Active TSS	Fetal Brain Female	brain
49	chr8:103818400-103819400	Weak transcription	Lung	lung
50	chr8:103818400-103819400	Active TSS	HSMMtube	muscle

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