Variant report

Variant	rs1262746
Chromosome Location	chr19:36231549-36231550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:377)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36231339-36232363	GM12878	blood:	n/a	n/a
2	PBX3	chr19:36231276-36231963	SK-N-SH	brain:	n/a	n/a
3	RCOR1	chr19:36231343-36232112	HepG2	liver:	n/a	n/a
4	SP4	chr19:36231241-36231956	H1-hESC	embryonic stem cell:	n/a	chr19:36231653-36231669 chr19:36231651-36231667 chr19:36231708-36231719 chr19:36231653-36231664
5	POLR2A	chr19:36231040-36232258	GM12878	blood:	n/a	n/a
6	CREB1	chr19:36231113-36232315	GM12878	blood:	n/a	n/a
7	STAT3	chr19:36231186-36231823	MCF10A-Er-Src	breast:	n/a	chr19:36231447-36231458
8	SIN3AK20	chr19:36230982-36232345	MCF-7	breast:	n/a	n/a
9	FOS	chr19:36231339-36231780	MCF10A-Er-Src	breast:	n/a	n/a
10	ELF1	chr19:36231196-36231880	K562	blood:	n/a	n/a
11	POLR2A	chr19:36227507-36232326	GM12892	blood:	n/a	n/a
12	ZNF143	chr19:36231443-36232210	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3AK20	chr19:36231260-36231574	HepG2	liver:	n/a	n/a
14	STAT3	chr19:36231259-36231994	MCF10A-Er-Src	breast:	n/a	chr19:36231447-36231458
15	NRF1	chr19:36231185-36232213	SK-N-SH	brain:	n/a	chr19:36231504-36231515
16	STAT3	chr19:36231261-36231635	Hela-S3	cervix:	n/a	chr19:36231447-36231458
17	KAP1	chr19:36231463-36232250	HEK293	kidney:	n/a	chr19:36231669-36231677
18	HCFC1	chr19:36230473-36231971	Hela-S3	cervix:	n/a	n/a
19	ARID3A	chr19:36231370-36232278	HepG2	liver:	n/a	n/a
20	SP2	chr19:36231390-36231728	H1-hESC	embryonic stem cell:	n/a	chr19:36231549-36231564 chr19:36231499-36231514
21	POU2F2	chr19:36231498-36232281	GM12891	blood:	n/a	chr19:36231712-36231724
22	ELF1	chr19:36231223-36231605	A549	lung:	n/a	n/a
23	CEBPB	chr19:36231196-36232006	H1-hESC	embryonic stem cell:	n/a	n/a
24	NR2F2	chr19:36231064-36232328	K562	blood:	n/a	n/a
25	EGR1	chr19:36231196-36231813	K562	blood:	n/a	chr19:36231656-36231669 chr19:36231657-36231668 chr19:36231655-36231670 chr19:36231335-36231349
26	MAX	chr19:36230884-36232326	A549	lung:	n/a	n/a
27	ATF1	chr19:36231337-36231801	K562	blood:	n/a	n/a
28	NFYA	chr19:36231411-36231687	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:36229918-36232235	MCF-7	breast:	n/a	n/a
30	ELF1	chr19:36231109-36232160	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:36227527-36232589	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:36228416-36232162	K562	blood:	n/a	n/a
33	NFATC1	chr19:36231166-36232173	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:36231320-36232072	MCF-7	breast:	n/a	n/a
35	FOS	chr19:36231359-36231594	MCF10A-Er-Src	breast:	n/a	n/a
36	REST	chr19:36231004-36232183	A549	lung:	n/a	chr19:36231654-36231667
37	SP2	chr19:36231351-36231771	HepG2	liver:	n/a	chr19:36231549-36231564 chr19:36231499-36231514
38	TCF7L2	chr19:36231342-36232180	HCT-116	colon:	n/a	n/a
39	CEBPB	chr19:36231162-36232037	A549	lung:	n/a	n/a
40	MAX	chr19:36231259-36232245	NB4	blood:	n/a	n/a
41	POLR2A	chr19:36230963-36232726	GM12878	blood:	n/a	n/a
42	MAFK	chr19:36231375-36231964	HepG2	liver:	n/a	n/a
43	ELF1	chr19:36231144-36231718	HepG2	liver:	n/a	n/a
44	MAX	chr19:36231219-36232211	SK-N-SH	brain:	n/a	n/a
45	EP300	chr19:36231170-36232367	K562	blood:	n/a	chr19:36231658-36231671
46	RELA	chr19:36231354-36232106	GM18951	blood:	n/a	n/a
47	BHLHE40	chr19:36231293-36232191	K562	blood:	n/a	n/a
48	CREB1	chr19:36230665-36232363	HepG2	liver:	n/a	n/a
49	HEY1	chr19:36231224-36232279	K562	blood:	n/a	n/a
50	TBP	chr19:36231338-36232150	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36231534-36231584	LNCaP	prostate:	n/a
2	chr19:36231534-36231584	ProgFib	skin:	n/a
3	chr19:36231534-36231584	NHBE	bronchial:	n/a
4	chr19:36231534-36231584	HPAEpiC	pulmonary alveolar:	n/a
5	chr19:36231534-36231584	AG10803	skin:	n/a
6	chr19:36231534-36231584	SK-N-SH	brain:	n/a
7	chr19:36231534-36231584	Hela-S3	cervix:	n/a
8	chr19:36231534-36231584	SK-N-MC	brain:	n/a
9	chr19:36231534-36231584	MCF-7	breast:	n/a
10	chr19:36231534-36231584	SK-N-SH_RA	brain:	n/a
11	chr19:36231534-36231584	NHDF-neo	bronchial:	n/a
12	chr19:36231534-36231584	CMK	blood:	n/a
13	chr19:36231534-36231584	PrEC	prostate:	n/a
14	chr19:36231534-36231584	HCM	heart:	n/a
15	chr19:36231534-36231584	Jurkat	blood:	n/a
16	chr19:36231534-36231584	HEEpiC	esophagus:	n/a
17	chr19:36231534-36231584	GM12891	blood:	n/a
18	chr19:36231534-36231584	HCF	heart:	n/a
19	chr19:36231534-36231584	Caco-2	colon:	n/a
20	chr19:36231534-36231584	HRPEpiC	eye:	n/a
21	chr19:36231534-36231584	HAEpiC	amniotic membrane:	n/a
22	chr19:36231534-36231584	HEK293	kidney:	embryo
23	chr19:36231534-36231584	SAEC	small airway:	n/a
24	chr19:36231534-36231584	HNPCEpiC	eye:	n/a
25	chr19:36231534-36231584	HepG2	liver:	n/a
26	chr19:36231534-36231584	AG09309	skin:	n/a
27	chr19:36231534-36231584	HRE	kidney:	n/a
28	chr19:36231534-36231584	GM12892	blood:	n/a
29	chr19:36231534-36231584	PANC-1	pancreas:	n/a
30	chr19:36231534-36231584	IMR90	lung:	fetal
31	chr19:36231534-36231584	BE2_C	brain:	n/a
32	chr19:36231534-36231584	GM19239	blood:	n/a
33	chr19:36231534-36231584	HRCEpiC	kidney:	n/a
34	chr19:36231534-36231584	HUVEC	blood vessel:	n/a
35	chr19:36231534-36231584	NB4	blood:	n/a
36	chr19:36231534-36231584	HCPEpiC	choroid plexus:	n/a
37	chr19:36231534-36231584	ovcar-3	ovarian:	n/a
38	chr19:36231534-36231584	NH-A	brain:	n/a
39	chr19:36231534-36231584	HL-60	blood:	n/a
40	chr19:36231534-36231584	ECC-1	luminal epithelium:	n/a
41	chr19:36231534-36231584	AG04450	lung:	fetal
42	chr19:36231534-36231584	BJ	skin:	n/a
43	chr19:36231534-36231584	MCF10A-Er-Src	breast:	n/a
44	chr19:36231534-36231584	AG04449	skin:	fetal
45	chr19:36231534-36231584	AoSMC	blood vessel:	n/a
46	chr19:36231534-36231584	HMEC	breast:	n/a
47	chr19:36231534-36231584	GM06990	blood:	n/a
48	chr19:36231534-36231584	NT2-D1	testis:	n/a
49	chr19:36231534-36231584	T-47D	breast:	n/a
50	chr19:36231534-36231584	RPTEC	kidney:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36205476..36213390-chr19:36226310..36233646,27	MCF-7	breast:
2	chr19:36231491..36233720-chr19:36248400..36250494,2	MCF-7	breast:

No data

Variant related genes	Relation type
IGFLR1	TF binding region
PSENEN	TF binding region
IGFLR1	CpG island
PSENEN	CpG island
ENSG00000004776	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000272333	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1262750	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1262751	1.00[AMR][1000 genomes]
rs1268319	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs179569	1.00[AMR][1000 genomes]
rs231215	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231219	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231220	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231224	1.00[AMR][1000 genomes]
rs231239	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231240	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231587	1.00[AMR][1000 genomes]
rs231595	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2428145	1.00[AMR][1000 genomes]
rs2520310	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73931233	1.00[AMR][1000 genomes]
rs807490	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv515536	chr19:36219525-36240960	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 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	chr19:36230600-36231800	Active TSS	Duodenum Mucosa	Duodenum
2	chr19:36230600-36232200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:36230600-36232600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr19:36230600-36232600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr19:36230600-36232600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:36230600-36232600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:36230600-36232800	Flanking Active TSS	Dnd41	blood
8	chr19:36230600-36233200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr19:36230800-36232200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr19:36230800-36232200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:36230800-36232200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr19:36230800-36232200	Flanking Active TSS	HUVEC	blood vessel
13	chr19:36230800-36232200	Flanking Active TSS	NH-A	brain
14	chr19:36230800-36232400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:36230800-36232400	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr19:36230800-36232400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr19:36230800-36232400	Active TSS	HSMM	muscle
18	chr19:36230800-36233000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr19:36230800-36234000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr19:36230800-36234000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr19:36230800-36234000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr19:36230800-36234000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:36230800-36234000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:36230800-36234200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr19:36230800-36234400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:36231000-36231800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:36231000-36231800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:36231000-36232000	Active TSS	Gastric	stomach
29	chr19:36231000-36232200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:36231000-36232200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:36231000-36232200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr19:36231000-36232200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:36231000-36232200	Active TSS	Esophagus	oesophagus
34	chr19:36231000-36232200	Active TSS	Fetal Kidney	kidney
35	chr19:36231000-36232200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr19:36231000-36232200	Flanking Active TSS	Placenta	Placenta
37	chr19:36231000-36232200	Active TSS	Left Ventricle	heart
38	chr19:36231000-36232200	Active TSS	Ovary	ovary
39	chr19:36231000-36232200	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr19:36231000-36232200	Active TSS	NHDF-Ad	bronchial
41	chr19:36231000-36232400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr19:36231000-36232400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr19:36231000-36232400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:36231000-36232400	Active TSS	Psoas Muscle	Psoas
45	chr19:36231000-36232400	Flanking Active TSS	NHLF	lung
46	chr19:36231000-36232600	Active TSS	H1 Cell Line	embryonic stem cell
47	chr19:36231000-36232600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:36231000-36232600	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr19:36231000-36232600	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr19:36231000-36232600	Flanking Active TSS	Fetal Thymus	thymus

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