Variant report

Variant	rs1800832
Chromosome Location	chr12:86268179-86268180
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	CTCF	chr12:86268080-86268230	HEK293	kidney:	n/a	n/a
2	CTCF	chr12:86268109-86268198	ProgFib	skin:	n/a	n/a
3	CTCF	chr12:86268040-86268190	GM06990	blood:	n/a	n/a
4	CTCF	chr12:86267960-86268326	GM12878	blood:	n/a	n/a
5	CTCF	chr12:86268080-86268230	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr12:86268160-86268310	HCM	heart:	n/a	n/a
7	POLR2A	chr12:86267956-86268241	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr12:86268100-86268250	HUVEC	blood vessel:	n/a	n/a
9	TAF1	chr12:86267935-86268182	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr12:86268111-86268179	HUVEC	blood vessel:	n/a	n/a
11	SPI1	chr12:86267894-86268367	GM12891	blood:	n/a	chr12:86268106-86268115 chr12:86268104-86268117 chr12:86268103-86268116 chr12:86268103-86268116 chr12:86268107-86268114
12	CTCF	chr12:86268040-86268190	GM12868	blood:	n/a	n/a
13	WRNIP1	chr12:86267930-86268293	GM12878	blood:	n/a	n/a
14	CTCF	chr12:86268080-86268230	GM12871	blood:	n/a	n/a
15	JUND	chr12:86267843-86268223	H1-hESC	embryonic stem cell:	n/a	chr12:86268021-86268030
16	CTCF	chr12:86268100-86268186	A549	lung:	n/a	n/a
17	CTCF	chr12:86268060-86268210	NB4	blood:	n/a	n/a
18	SPI1	chr12:86267832-86268297	GM12891	blood:	n/a	chr12:86268106-86268115 chr12:86268104-86268117 chr12:86268103-86268116 chr12:86268103-86268116 chr12:86268107-86268114
19	CTCF	chr12:86268080-86268230	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr12:86268060-86268210	GM12867	blood:	n/a	n/a
21	CTCF	chr12:86268100-86268250	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr12:86268060-86268210	HPF	lung:	n/a	n/a
23	CTCF	chr12:86268060-86268210	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr12:86268120-86268270	GM06990	blood:	n/a	n/a
25	CTCF	chr12:86268100-86268250	GM12867	blood:	n/a	n/a
26	CTCF	chr12:86268060-86268210	HBMEC	blood vessel:	n/a	n/a
27	SPI1	chr12:86267855-86268335	HL-60	blood:	n/a	chr12:86268106-86268115 chr12:86268104-86268117 chr12:86268103-86268116 chr12:86268103-86268116 chr12:86268107-86268114
28	SPI1	chr12:86267775-86268375	GM12878	blood:	n/a	chr12:86268106-86268115 chr12:86268104-86268117 chr12:86268103-86268116 chr12:86268103-86268116 chr12:86268107-86268114
29	SPI1	chr12:86268014-86268212	K562	blood:	n/a	chr12:86268106-86268115 chr12:86268104-86268117 chr12:86268103-86268116 chr12:86268103-86268116 chr12:86268107-86268114
30	CTCF	chr12:86268111-86268184	GM13976	blood:	n/a	n/a
31	SPI1	chr12:86267952-86268314	GM12878	blood:	n/a	chr12:86268106-86268115 chr12:86268104-86268117 chr12:86268103-86268116 chr12:86268103-86268116 chr12:86268107-86268114
32	REST	chr12:86267922-86268270	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr12:86268080-86268230	HMF	breast:	n/a	n/a
34	ATF2	chr12:86267846-86268296	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr12:86268120-86268270	HAc	cerebellar:	n/a	n/a
36	CTCF	chr12:86268040-86268190	AG09319	gingival:	n/a	n/a
37	CTCF	chr12:86268080-86268230	HCPEpiC	choroid plexus:	n/a	n/a
38	SPI1	chr12:86268002-86268209	GM12878	blood:	n/a	chr12:86268106-86268115 chr12:86268104-86268117 chr12:86268103-86268116 chr12:86268103-86268116 chr12:86268107-86268114
39	CTCF	chr12:86268060-86268210	AoAF	blood vessel:	n/a	n/a
40	POLR2A	chr12:86267796-86270056	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr12:86268040-86268190	BE2_C	brain:	n/a	n/a
42	CTCF	chr12:86268040-86268190	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr12:86268040-86268190	GM12869	blood:	n/a	n/a
44	CTCF	chr12:86268060-86268210	HRE	kidney:	n/a	n/a
45	CTCF	chr12:86268100-86268250	GM12872	blood:	n/a	n/a
46	CTCF	chr12:86268100-86268250	HA-sp	spinal cord:	n/a	n/a
47	POLR2A	chr12:86268053-86268241	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr12:86268038-86268217	Gliobla	brain:	n/a	n/a
49	ATF2	chr12:86267833-86268209	GM12878	blood:	n/a	n/a
50	SPI1	chr12:86267873-86268355	HL-60	blood:	n/a	chr12:86268106-86268115 chr12:86268104-86268117 chr12:86268103-86268116 chr12:86268103-86268116 chr12:86268107-86268114

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:86268154-86268204	GM12892	blood:	n/a
2	chr12:86268154-86268204	HRCEpiC	kidney:	n/a
3	chr12:86268154-86268204	H1-hESC	embryonic stem cell:	embryo
4	chr12:86268154-86268204	HCPEpiC	choroid plexus:	n/a
5	chr12:86268154-86268204	Caco-2	colon:	n/a
6	chr12:86268154-86268204	PFSK-1	brain:	n/a
7	chr12:86268154-86268204	RPTEC	kidney:	n/a
8	chr12:86268154-86268204	NHDF-neo	bronchial:	n/a
9	chr12:86268154-86268204	T-47D	breast:	n/a
10	chr12:86268154-86268204	SK-N-SH	brain:	n/a
11	chr12:86268154-86268204	HL-60	blood:	n/a
12	chr12:86268154-86268204	CMK	blood:	n/a
13	chr12:86268154-86268204	HRPEpiC	eye:	n/a
14	chr12:86268154-86268204	MCF10A-Er-Src	breast:	n/a
15	chr12:86268154-86268204	U87	brain:	n/a
16	chr12:86268154-86268204	HEK293	kidney:	embryo
17	chr12:86268154-86268204	MCF-7	breast:	n/a
18	chr12:86268154-86268204	HUVEC	blood vessel:	n/a
19	chr12:86268154-86268204	HMEC	breast:	n/a
20	chr12:86268154-86268204	ECC-1	luminal epithelium:	n/a
21	chr12:86268154-86268204	HRE	kidney:	n/a
22	chr12:86268154-86268204	AG10803	skin:	n/a
23	chr12:86268154-86268204	GM19239	blood:	n/a
24	chr12:86268154-86268204	SKMC	muscle:	n/a
25	chr12:86268154-86268204	HPAEpiC	pulmonary alveolar:	n/a
26	chr12:86268154-86268204	HEEpiC	esophagus:	n/a
27	chr12:86268154-86268204	HCT-116	colon:	n/a
28	chr12:86268154-86268204	SK-N-MC	brain:	n/a
29	chr12:86268154-86268204	HCM	heart:	n/a
30	chr12:86268154-86268204	BE2_C	brain:	n/a
31	chr12:86268154-86268204	SK-N-SH_RA	brain:	n/a
32	chr12:86268154-86268204	GM12891	blood:	n/a
33	chr12:86268154-86268204	ProgFib	skin:	n/a
34	chr12:86268154-86268204	GM12878	blood:	n/a
35	chr12:86268154-86268204	NH-A	brain:	n/a
36	chr12:86268154-86268204	BJ	skin:	n/a
37	chr12:86268154-86268204	NHBE	bronchial:	n/a
38	chr12:86268154-86268204	SAEC	small airway:	n/a
39	chr12:86268154-86268204	K562	blood:	n/a
40	chr12:86268154-86268204	AG09309	skin:	n/a
41	chr12:86268154-86268204	HCF	heart:	n/a
42	chr12:86268154-86268204	AG04449	skin:	fetal
43	chr12:86268154-86268204	AoSMC	blood vessel:	n/a
44	chr12:86268154-86268204	Hepatocyte	liver:	n/a
45	chr12:86268154-86268204	AG04450	lung:	fetal
46	chr12:86268154-86268204	A549	lung:	n/a
47	chr12:86268154-86268204	Hela-S3	cervix:	n/a
48	chr12:86268154-86268204	HepG2	liver:	n/a
49	chr12:86268154-86268204	NB4	blood:	n/a
50	chr12:86268154-86268204	GM06990	blood:	n/a

Variant related genes	Relation type
NTS	TF binding region
NTS	CpG island

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs55644633	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55694421	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55736533	0.96[EUR][1000 genomes]
rs55746689	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55754162	0.86[EUR][1000 genomes]
rs55811116	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55811700	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55853578	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55856700	0.96[EUR][1000 genomes]
rs55899243	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55900789	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55926212	0.96[EUR][1000 genomes]
rs55966514	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56055322	0.86[EUR][1000 genomes]
rs56080507	0.83[EUR][1000 genomes]
rs56145432	0.83[EUR][1000 genomes]
rs56169451	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56208754	0.86[EUR][1000 genomes]
rs56298026	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56323012	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61928894	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61928895	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61928896	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61928898	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61928900	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61928903	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61928904	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61928908	0.94[EUR][1000 genomes]
rs61928913	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61928917	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61928918	0.88[EUR][1000 genomes]
rs61928956	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61928957	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61928958	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61928959	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61930060	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61930061	0.86[EUR][1000 genomes]
rs61930062	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61930069	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61930070	0.86[EUR][1000 genomes]
rs61930071	0.86[AMR][1000 genomes]
rs61930072	0.81[AMR][1000 genomes]
rs61930073	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61930075	0.86[EUR][1000 genomes]
rs61930079	0.86[EUR][1000 genomes]
rs61930080	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61930082	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61930122	0.87[EUR][1000 genomes]
rs61930124	0.96[EUR][1000 genomes]
rs61930128	0.96[EUR][1000 genomes]
rs61930130	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61930131	0.87[EUR][1000 genomes]
rs61930135	0.96[EUR][1000 genomes]
rs61930136	0.87[EUR][1000 genomes]
rs61930578	0.81[EUR][1000 genomes]
rs61930583	0.80[EUR][1000 genomes]
rs61930594	0.82[EUR][1000 genomes]
rs61930596	0.82[EUR][1000 genomes]
rs61930597	0.83[EUR][1000 genomes]
rs61930598	0.83[EUR][1000 genomes]
rs61930627	0.83[EUR][1000 genomes]
rs61930642	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61930643	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61930649	0.85[EUR][1000 genomes]
rs61930651	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61930652	0.85[EUR][1000 genomes]
rs61930653	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61930863	0.96[EUR][1000 genomes]
rs61930876	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61930878	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930880	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930881	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930882	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930895	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7132746	0.85[EUR][1000 genomes]
rs7962310	0.96[EUR][1000 genomes]
rs7973110	0.96[EUR][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	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1049443	chr12:86185887-86272493	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
5	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1036914	chr12:86201703-86272493	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86267600-86268200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
2	chr12:86267600-86268600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:86267600-86269200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:86267600-86270000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:86267800-86268200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:86267800-86268200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:86267800-86268200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:86267800-86268200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:86267800-86268200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:86267800-86268200	Enhancers	Esophagus	oesophagus
11	chr12:86267800-86268200	Active TSS	Fetal Kidney	kidney
12	chr12:86267800-86268400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr12:86267800-86268400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:86267800-86268400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:86267800-86268400	Enhancers	Fetal Heart	heart
16	chr12:86267800-86268600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:86267800-86268600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:86267800-86268600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr12:86267800-86268600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:86267800-86268800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:86267800-86269000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr12:86267800-86269000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr12:86267800-86271200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:86268000-86268200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:86268000-86268200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:86268000-86268200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:86268000-86268400	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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