Variant report

Variant	rs34469351
Chromosome Location	chr2:98613175-98613176
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	EGR1	chr2:98612125-98613185	HCT-116	colon:	n/a	chr2:98612454-98612464 chr2:98612453-98612466 chr2:98612284-98612293 chr2:98612731-98612753 chr2:98612737-98612747 chr2:98612735-98612748 chr2:98612737-98612746 chr2:98612450-98612464 chr2:98612740-98612750 chr2:98612735-98612748 chr2:98612453-98612466 chr2:98612738-98612747 chr2:98612454-98612464 chr2:98612736-98612747 chr2:98612735-98612748 chr2:98612453-98612466 chr2:98612452-98612466 chr2:98612736-98612747 chr2:98612454-98612465 chr2:98612734-98612749 chr2:98612454-98612463 chr2:98612737-98612747 chr2:98612453-98612460 chr2:98612735-98612748 chr2:98612280-98612289 chr2:98612454-98612465 chr2:98612735-98612749
2	MAX	chr2:98611578-98613212	ECC-1	luminal epithelium:	n/a	chr2:98612354-98612364 chr2:98612740-98612750 chr2:98612693-98612703
3	MAX	chr2:98612065-98613307	A549	lung:	n/a	chr2:98612354-98612364 chr2:98612740-98612750 chr2:98612693-98612703
4	MAX	chr2:98612169-98613193	SK-N-SH	brain:	n/a	chr2:98612354-98612364 chr2:98612740-98612750 chr2:98612693-98612703
5	CREB1	chr2:98611524-98613194	HepG2	liver:	n/a	n/a
6	E2F6	chr2:98612468-98613304	A549	lung:	n/a	chr2:98612724-98612734 chr2:98612783-98612793 chr2:98612741-98612756
7	BHLHE40	chr2:98611636-98613188	K562	blood:	n/a	chr2:98611838-98611854 chr2:98612174-98612190 chr2:98612742-98612758
8	POLR2A	chr2:98611017-98613177	GM12878	blood:	n/a	n/a
9	SP1	chr2:98612070-98613198	HCT-116	colon:	n/a	chr2:98612740-98612749 chr2:98612431-98612440 chr2:98612429-98612441 chr2:98612750-98612761 chr2:98612431-98612440 chr2:98612430-98612439 chr2:98612739-98612751 chr2:98612739-98612750 chr2:98612740-98612750 chr2:98612739-98612751 chr2:98612519-98612533 chr2:98612430-98612440 chr2:98612741-98612750 chr2:98612426-98612440 chr2:98612740-98612750 chr2:98612429-98612441 chr2:98612430-98612440
10	NFIC	chr2:98612289-98613177	GM12878	blood:	n/a	n/a
11	EGR1	chr2:98612016-98613206	HCT-116	colon:	n/a	chr2:98612454-98612464 chr2:98612453-98612466 chr2:98612284-98612293 chr2:98612731-98612753 chr2:98612737-98612747 chr2:98612735-98612748 chr2:98612737-98612746 chr2:98612450-98612464 chr2:98612740-98612750 chr2:98612735-98612748 chr2:98612453-98612466 chr2:98612738-98612747 chr2:98612454-98612464 chr2:98612736-98612747 chr2:98612735-98612748 chr2:98612453-98612466 chr2:98612452-98612466 chr2:98612736-98612747 chr2:98612454-98612465 chr2:98612734-98612749 chr2:98612454-98612463 chr2:98612737-98612747 chr2:98612453-98612460 chr2:98612735-98612748 chr2:98612280-98612289 chr2:98612454-98612465 chr2:98612735-98612749
12	POLR2A	chr2:98611422-98613217	GM12878	blood:	n/a	n/a
13	MAX	chr2:98612130-98613195	ECC-1	luminal epithelium:	n/a	chr2:98612354-98612364 chr2:98612740-98612750 chr2:98612693-98612703
14	PML	chr2:98611215-98613259	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:98611367-98613184	HL-60	blood:	n/a	n/a
16	POLR2A	chr2:98611648-98613192	MCF-7	breast:	n/a	n/a
17	YY1	chr2:98611523-98613194	ECC-1	luminal epithelium:	n/a	chr2:98612180-98612194 chr2:98612720-98612731 chr2:98612215-98612224 chr2:98612645-98612667 chr2:98612183-98612192 chr2:98612649-98612669 chr2:98612186-98612195 chr2:98612378-98612400 chr2:98612180-98612189 chr2:98611781-98611795 chr2:98612657-98612667 chr2:98612215-98612229 chr2:98612181-98612192 chr2:98612746-98612757 chr2:98612377-98612389 chr2:98611842-98611856 chr2:98612702-98612716
18	POLR2A	chr2:98611441-98613359	GM19193	blood:	n/a	n/a
19	MAX	chr2:98612147-98613176	H1-hESC	embryonic stem cell:	n/a	chr2:98612354-98612364 chr2:98612740-98612750 chr2:98612693-98612703
20	MAX	chr2:98612195-98613255	MCF-7	breast:	n/a	chr2:98612354-98612364 chr2:98612740-98612750 chr2:98612693-98612703
21	MAZ	chr2:98611401-98613190	IMR90	lung:	n/a	chr2:98612354-98612364 chr2:98612740-98612750
22	POLR2A	chr2:98611354-98613217	GM12892	blood:	n/a	n/a
23	MXI1	chr2:98611299-98613215	IMR90	lung:	n/a	n/a
24	MTA3	chr2:98612153-98613217	GM12878	blood:	n/a	n/a
25	E2F6	chr2:98611663-98613183	K562	blood:	n/a	chr2:98612186-98612195 chr2:98612219-98612229 chr2:98612181-98612191 chr2:98611784-98611794 chr2:98612724-98612734 chr2:98612783-98612793 chr2:98612741-98612756
26	USF1	chr2:98612078-98613205	ECC-1	luminal epithelium:	n/a	chr2:98612174-98612190 chr2:98612742-98612758
27	POLR2A	chr2:98611431-98613532	MCF10A-Er-Src	breast:	n/a	n/a
28	SMARCB1	chr2:98611597-98613180	Hela-S3	cervix:	n/a	n/a
29	HCFC1	chr2:98610694-98613216	Hela-S3	cervix:	n/a	n/a
30	YY1	chr2:98611549-98613226	HepG2	liver:	n/a	chr2:98612180-98612194 chr2:98612720-98612731 chr2:98612215-98612224 chr2:98612645-98612667 chr2:98612183-98612192 chr2:98612649-98612669 chr2:98612186-98612195 chr2:98612378-98612400 chr2:98612180-98612189 chr2:98611781-98611795 chr2:98612657-98612667 chr2:98612215-98612229 chr2:98612181-98612192 chr2:98612746-98612757 chr2:98612377-98612389 chr2:98611842-98611856 chr2:98612702-98612716
31	STAT5A	chr2:98612139-98613185	GM12878	blood:	n/a	chr2:98612742-98612754
32	POLR2A	chr2:98609735-98613766	GM12891	blood:	n/a	n/a
33	YY1	chr2:98611591-98613343	H1-hESC	embryonic stem cell:	n/a	chr2:98612180-98612194 chr2:98612720-98612731 chr2:98612215-98612224 chr2:98612645-98612667 chr2:98612183-98612192 chr2:98612649-98612669 chr2:98612186-98612195 chr2:98612378-98612400 chr2:98612180-98612189 chr2:98611781-98611795 chr2:98612657-98612667 chr2:98612215-98612229 chr2:98612181-98612192 chr2:98612746-98612757 chr2:98612377-98612389 chr2:98611842-98611856 chr2:98612702-98612716
34	JUN	chr2:98611516-98613206	K562	blood:	n/a	chr2:98612373-98612382 chr2:98612947-98612957
35	POLR2A	chr2:98611570-98613210	MCF-7	breast:	n/a	n/a
36	EP300	chr2:98611531-98613208	ECC-1	luminal epithelium:	n/a	chr2:98611784-98611793 chr2:98612182-98612191 chr2:98613190-98613204 chr2:98612711-98612727 chr2:98612718-98612734
37	YY1	chr2:98611630-98613200	A549	lung:	n/a	chr2:98612180-98612194 chr2:98612720-98612731 chr2:98612215-98612224 chr2:98612645-98612667 chr2:98612183-98612192 chr2:98612649-98612669 chr2:98612186-98612195 chr2:98612378-98612400 chr2:98612180-98612189 chr2:98611781-98611795 chr2:98612657-98612667 chr2:98612215-98612229 chr2:98612181-98612192 chr2:98612746-98612757 chr2:98612377-98612389 chr2:98611842-98611856 chr2:98612702-98612716
38	MAX	chr2:98612028-98613299	MCF-7	breast:	n/a	chr2:98612354-98612364 chr2:98612740-98612750 chr2:98612693-98612703
39	POLR2A	chr2:98611553-98613187	HL-60	blood:	n/a	n/a
40	POLR2A	chr2:98611381-98613197	GM12878	blood:	n/a	n/a
41	MAX	chr2:98611450-98613354	A549	lung:	n/a	chr2:98612354-98612364 chr2:98612740-98612750 chr2:98612693-98612703
42	POLR2A	chr2:98611395-98613189	GM12878	blood:	n/a	n/a
43	MXI1	chr2:98610792-98613428	SK-N-SH	brain:	n/a	n/a
44	MYBL2	chr2:98611820-98613218	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:98612026-98613209	SK-N-MC	brain:	n/a	n/a
46	REST	chr2:98611502-98613351	H1-neurons	neurons:	n/a	chr2:98612629-98612642 chr2:98612209-98612229
47	MAX	chr2:98611483-98613181	HepG2	liver:	n/a	chr2:98612354-98612364 chr2:98612740-98612750 chr2:98612693-98612703
48	NRF1	chr2:98612079-98613216	SK-N-SH	brain:	n/a	chr2:98612745-98612756 chr2:98612740-98612749 chr2:98612720-98612731
49	POLR2A	chr2:98611708-98613231	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr2:98610947-98613478	GM18505	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98612119..98614854-chr2:98702248..98705786,3	K562	blood:
2	chr2:98610350..98614892-chr2:98700211..98704879,10	MCF-7	breast:

Variant related genes	Relation type
TMEM131	TF binding region
ENSG00000168658	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10166513	0.90[ASN][1000 genomes]
rs10167772	0.90[ASN][1000 genomes]
rs10168543	0.84[ASN][1000 genomes]
rs10175129	0.90[ASN][1000 genomes]
rs10180434	0.90[ASN][1000 genomes]
rs10183768	0.90[ASN][1000 genomes]
rs10188497	0.84[ASN][1000 genomes]
rs10188713	0.84[ASN][1000 genomes]
rs10189414	0.90[ASN][1000 genomes]
rs10191101	0.90[ASN][1000 genomes]
rs10202138	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10206684	0.90[ASN][1000 genomes]
rs10209970	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10210520	0.84[ASN][1000 genomes]
rs10210880	0.97[ASN][1000 genomes]
rs1024086	0.81[AMR][1000 genomes]
rs11886417	0.97[ASN][1000 genomes]
rs11893437	0.88[ASN][1000 genomes]
rs11894541	0.90[ASN][1000 genomes]
rs11894895	0.84[ASN][1000 genomes]
rs11897301	0.84[ASN][1000 genomes]
rs12712117	0.84[ASN][1000 genomes]
rs12712120	0.84[ASN][1000 genomes]
rs12712162	0.85[ASN][1000 genomes]
rs12712172	0.90[ASN][1000 genomes]
rs12992955	0.90[ASN][1000 genomes]
rs13000585	0.90[ASN][1000 genomes]
rs13008904	0.90[ASN][1000 genomes]
rs13009300	0.80[AMR][1000 genomes]
rs13010004	0.84[ASN][1000 genomes]
rs1446327	0.84[ASN][1000 genomes]
rs1960329	0.84[ASN][1000 genomes]
rs1982336	0.84[ASN][1000 genomes]
rs2121271	0.84[ASN][1000 genomes]
rs34190123	0.90[ASN][1000 genomes]
rs34414288	0.84[ASN][1000 genomes]
rs35185431	0.84[ASN][1000 genomes]
rs35203092	0.84[ASN][1000 genomes]
rs35589428	0.85[EUR][1000 genomes]
rs35776557	0.93[ASN][1000 genomes]
rs35807655	0.90[ASN][1000 genomes]
rs35940587	0.97[ASN][1000 genomes]
rs36079497	0.97[ASN][1000 genomes]
rs3821053	0.84[ASN][1000 genomes]
rs55753459	0.90[ASN][1000 genomes]
rs6543111	0.82[ASN][1000 genomes]
rs6712078	0.84[ASN][1000 genomes]
rs6718982	0.97[ASN][1000 genomes]
rs6728312	0.84[ASN][1000 genomes]
rs6738401	0.90[ASN][1000 genomes]
rs6751727	0.90[ASN][1000 genomes]
rs6755021	0.90[ASN][1000 genomes]
rs6756969	0.97[ASN][1000 genomes]
rs6760008	0.84[ASN][1000 genomes]
rs68115667	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71429373	0.90[ASN][1000 genomes]
rs718159	0.84[ASN][1000 genomes]
rs7557495	0.90[ASN][1000 genomes]
rs7570009	0.84[ASN][1000 genomes]
rs7578638	0.97[ASN][1000 genomes]
rs7582298	0.90[ASN][1000 genomes]
rs7588227	0.97[ASN][1000 genomes]
rs7593290	0.84[ASN][1000 genomes]
rs7594928	0.90[ASN][1000 genomes]
rs7595039	0.84[ASN][1000 genomes]
rs7599043	0.90[ASN][1000 genomes]
rs7605288	0.97[ASN][1000 genomes]
rs905484	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9973490	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr2:98609200-98613400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:98609400-98613200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:98609800-98613200	Active TSS	Aorta	Aorta
4	chr2:98609800-98613400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:98610000-98613200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:98610200-98613200	Active TSS	Colonic Mucosa	Colon
7	chr2:98610400-98613200	Active TSS	Stomach Mucosa	stomach
8	chr2:98610400-98613400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:98610400-98613400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:98610400-98613400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:98610600-98613200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr2:98610600-98613200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:98610600-98613200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:98610600-98613200	Active TSS	Fetal Kidney	kidney
15	chr2:98610600-98613200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:98610600-98613200	Active TSS	Fetal Lung	lung
17	chr2:98610600-98613200	Active TSS	Left Ventricle	heart
18	chr2:98610600-98613200	Active TSS	Ovary	ovary
19	chr2:98610600-98613200	Active TSS	A549	lung
20	chr2:98610600-98613200	Active TSS	HSMMtube	muscle
21	chr2:98610800-98613200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:98610800-98613200	Active TSS	Placenta Amnion	Placenta Amnion
23	chr2:98610800-98613200	Active TSS	Psoas Muscle	Psoas
24	chr2:98610800-98613200	Active TSS	Rectal Smooth Muscle	rectum
25	chr2:98610800-98613200	Active TSS	NH-A	brain
26	chr2:98610800-98613600	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr2:98610800-98613600	Active TSS	Brain Hippocampus Middle	brain
28	chr2:98611000-98613200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr2:98611000-98613200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:98611000-98613200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr2:98611000-98613200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:98611000-98613400	Active TSS	Brain Germinal Matrix	brain
33	chr2:98611000-98613400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:98611200-98613200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:98611200-98613200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr2:98611200-98613200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr2:98611200-98613200	Active TSS	Duodenum Mucosa	Duodenum
38	chr2:98611200-98613400	Active TSS	Fetal Brain Female	brain
39	chr2:98611200-98613600	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr2:98611400-98613200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr2:98611400-98613200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:98611400-98613200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:98611400-98613200	Active TSS	Brain Angular Gyrus	brain
44	chr2:98611400-98613200	Active TSS	Brain Substantia Nigra	brain
45	chr2:98611400-98613200	Active TSS	Colon Smooth Muscle	Colon
46	chr2:98611400-98613200	Active TSS	Fetal Brain Male	brain
47	chr2:98611400-98613200	Active TSS	Lung	lung
48	chr2:98611400-98613200	Active TSS	Stomach Smooth Muscle	stomach
49	chr2:98611400-98613600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:98611600-98613200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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