Variant report

Variant	rs12185692
Chromosome Location	chr2:171670826-171670827
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	REST	chr2:171670485-171671130	A549	lung:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
2	FOXP2	chr2:171670655-171670912	SK-N-MC	brain:	n/a	n/a
3	TEAD4	chr2:171670574-171671168	A549	lung:	n/a	n/a
4	CTCF	chr2:171670795-171670847	Fibrobl	skin:	n/a	n/a
5	MXI1	chr2:171670712-171671011	K562	blood:	n/a	n/a
6	MXI1	chr2:171670601-171671086	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr2:171670309-171671641	MCF-7	breast:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
8	SIN3AK20	chr2:171670625-171671001	H1-hESC	embryonic stem cell:	n/a	n/a
9	THAP1	chr2:171670740-171670945	K562	blood:	n/a	n/a
10	SIN3AK20	chr2:171670641-171671015	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:171669667-171676754	H1-neurons	neurons:	n/a	n/a
12	MXI1	chr2:171670556-171671156	IMR90	lung:	n/a	n/a
13	CTCF	chr2:171670800-171670950	HEEpiC	esophagus:	n/a	n/a
14	REST	chr2:171670030-171672638	HL-60	blood:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171672540-171672553 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
15	ELF1	chr2:171670591-171671116	MCF-7	breast:	n/a	n/a
16	REST	chr2:171670733-171670974	PFSK-1	brain:	n/a	chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
17	REST	chr2:171670718-171670964	SK-N-SH	brain:	n/a	chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
18	MYC	chr2:171670743-171670892	MCF10A-Er-Src	breast:	n/a	n/a
19	CTBP2	chr2:171670194-171670981	H1-hESC	embryonic stem cell:	n/a	n/a
20	REST	chr2:171670659-171671107	SK-N-SH	brain:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
21	MXI1	chr2:171670741-171670995	HepG2	liver:	n/a	n/a
22	REST	chr2:171670620-171671111	GM12878	blood:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
23	MAX	chr2:171670660-171670955	K562	blood:	n/a	n/a
24	STAT3	chr2:171670690-171670833	MCF10A-Er-Src	breast:	n/a	chr2:171670698-171670706
25	SIN3A	chr2:171669186-171672942	H1-hESC	embryonic stem cell:	n/a	chr2:171670866-171670879 chr2:171672333-171672342 chr2:171670871-171670885 chr2:171672540-171672553
26	REST	chr2:171670619-171671108	HCT-116	colon:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
27	REST	chr2:171670549-171671583	H1-hESC	embryonic stem cell:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
28	MAX	chr2:171670652-171671026	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr2:171670680-171671129	Hela-S3	cervix:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
30	TEAD4	chr2:171670640-171671219	ECC-1	luminal epithelium:	n/a	n/a
31	ZNF263	chr2:171670642-171670968	HEK293-T-REx	kidney:	n/a	chr2:171670842-171670863 chr2:171670778-171670787
32	RCOR1	chr2:171670684-171671002	K562	blood:	n/a	n/a
33	REST	chr2:171670517-171671170	GM12878	blood:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
34	REST	chr2:171670421-171671333	H1-neurons	neurons:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
35	MAZ	chr2:171670723-171670921	K562	blood:	n/a	n/a
36	MAX	chr2:171670631-171671155	ECC-1	luminal epithelium:	n/a	n/a
37	MAX	chr2:171670630-171671092	MCF-7	breast:	n/a	n/a
38	TEAD4	chr2:171670658-171671161	ECC-1	luminal epithelium:	n/a	n/a
39	TEAD4	chr2:171670572-171671138	H1-hESC	embryonic stem cell:	n/a	n/a
40	REST	chr2:171670676-171670998	HepG2	liver:	n/a	chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
41	REST	chr2:171670567-171671162	HCT-116	colon:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
42	REST	chr2:171670626-171671092	HepG2	liver:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
43	REST	chr2:171670453-171671231	PFSK-1	brain:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
44	REST	chr2:171670357-171671483	SK-N-SH	brain:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
45	REST	chr2:171670682-171671006	PANC-1	pancreas:	n/a	chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
46	REST	chr2:171670433-171671458	HL-60	blood:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
47	REST	chr2:171670669-171671015	PANC-1	pancreas:	n/a	chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
48	REST	chr2:171670373-171671809	H1-hESC	embryonic stem cell:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886
49	SMC3	chr2:171670732-171670983	HepG2	liver:	n/a	n/a
50	REST	chr2:171670519-171671103	U87	brain:	n/a	chr2:171671032-171671045 chr2:171670866-171670875 chr2:171670866-171670886 chr2:171670866-171670886 chr2:171670869-171670882 chr2:171670872-171670886 chr2:171670867-171670885 chr2:171670866-171670886

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:171670795-171670845	AG04449	skin:	fetal
2	chr2:171670795-171670845	SKMC	muscle:	n/a
3	chr2:171670795-171670845	Hepatocyte	liver:	n/a
4	chr2:171670795-171670845	PrEC	prostate:	n/a
5	chr2:171670795-171670845	SK-N-MC	brain:	n/a
6	chr2:171670795-171670845	K562	blood:	n/a
7	chr2:171670795-171670845	RPTEC	kidney:	n/a
8	chr2:171670795-171670845	GM06990	blood:	n/a
9	chr2:171670795-171670845	GM19239	blood:	n/a
10	chr2:171670795-171670845	IMR90	lung:	fetal
11	chr2:171670795-171670845	HCT-116	colon:	n/a
12	chr2:171670795-171670845	T-47D	breast:	n/a
13	chr2:171670795-171670845	MCF10A-Er-Src	breast:	n/a
14	chr2:171670795-171670845	AG04450	lung:	fetal
15	chr2:171670795-171670845	ProgFib	skin:	n/a
16	chr2:171670795-171670845	HNPCEpiC	eye:	n/a
17	chr2:171670795-171670845	NHBE	bronchial:	n/a
18	chr2:171670795-171670845	Caco-2	colon:	n/a
19	chr2:171670795-171670845	PFSK-1	brain:	n/a
20	chr2:171670795-171670845	HMEC	breast:	n/a
21	chr2:171670795-171670845	HUVEC	blood vessel:	n/a
22	chr2:171670795-171670845	A549	lung:	n/a
23	chr2:171670795-171670845	H1-hESC	embryonic stem cell:	embryo
24	chr2:171670795-171670845	Jurkat	blood:	n/a
25	chr2:171670795-171670845	SK-N-SH_RA	brain:	n/a
26	chr2:171670795-171670845	HRCEpiC	kidney:	n/a
27	chr2:171670795-171670845	ovcar-3	ovarian:	n/a
28	chr2:171670795-171670845	HepG2	liver:	n/a
29	chr2:171670795-171670845	LNCaP	prostate:	n/a
30	chr2:171670795-171670845	MCF-7	breast:	n/a
31	chr2:171670795-171670845	SK-N-SH	brain:	n/a
32	chr2:171670795-171670845	HCPEpiC	choroid plexus:	n/a
33	chr2:171670795-171670845	GM12892	blood:	n/a
34	chr2:171670795-171670845	HRE	kidney:	n/a
35	chr2:171670795-171670845	HRPEpiC	eye:	n/a
36	chr2:171670795-171670845	GM12878	blood:	n/a
37	chr2:171670795-171670845	HEEpiC	esophagus:	n/a
38	chr2:171670795-171670845	Hela-S3	cervix:	n/a
39	chr2:171670795-171670845	HL-60	blood:	n/a
40	chr2:171670795-171670845	HEK293	kidney:	embryo
41	chr2:171670795-171670845	AoSMC	blood vessel:	n/a
42	chr2:171670795-171670845	HCF	heart:	n/a
43	chr2:171670795-171670845	NB4	blood:	n/a
44	chr2:171670795-171670845	BJ	skin:	n/a
45	chr2:171670795-171670845	GM12891	blood:	n/a
46	chr2:171670795-171670845	HAEpiC	amniotic membrane:	n/a
47	chr2:171670795-171670845	SAEC	small airway:	n/a
48	chr2:171670795-171670845	CMK	blood:	n/a
49	chr2:171670795-171670845	HPAEpiC	pulmonary alveolar:	n/a
50	chr2:171670795-171670845	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171264048..171266072-chr2:171669517..171671938,2	MCF-7	breast:
2	chr2:171669367..171672253-chr2:171672351..171673917,2	K562	blood:

Variant related genes	Relation type
GAD1	TF binding region
GAD1	CpG island
ENSG00000235934	Chromatin interaction
ENSG00000128683	Chromatin interaction
ENSG00000071909	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13000989	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34288552	0.85[ASN][1000 genomes]
rs34886087	0.85[ASN][1000 genomes]
rs36019625	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3749035	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3791866	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3791867	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3791869	0.81[EUR][1000 genomes]
rs3791870	0.81[EUR][1000 genomes]
rs3791874	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3828275	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806894	chr2:171651783-171679041	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171669600-171672000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
2	chr2:171669600-171672000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr2:171669600-171672200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr2:171669600-171673000	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr2:171669600-171675400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr2:171669800-171672000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
7	chr2:171670000-171671000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:171670000-171672000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
9	chr2:171670200-171671000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr2:171670200-171671000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:171670200-171671000	Bivalent Enhancer	NHEK	skin
12	chr2:171670200-171676200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr2:171670400-171671000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
14	chr2:171670400-171671000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
15	chr2:171670400-171672000	Weak transcription	K562	blood
16	chr2:171670400-171676600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr2:171670600-171671000	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr2:171670600-171671800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:171670600-171672200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:171670600-171672600	Weak transcription	Gastric	stomach
21	chr2:171670800-171671000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr2:171670800-171671000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr2:171670800-171671000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr2:171670800-171671000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
25	chr2:171670800-171671000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
26	chr2:171670800-171671200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr2:171670800-171671200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr2:171670800-171671200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:171670800-171671400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr2:171670800-171671600	Weak transcription	Pancreas	Pancrea
31	chr2:171670800-171672000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:171670800-171672000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:171670800-171672000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin

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