Variant report

Variant	rs12673970
Chromosome Location	chr7:19813018-19813019
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	REST	chr7:19812434-19813054	PANC-1	pancreas:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923
2	REST	chr7:19812379-19813099	PANC-1	pancreas:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923
3	RAD21	chr7:19812471-19813386	H1-hESC	embryonic stem cell:	n/a	chr7:19813338-19813348 chr7:19812517-19812531
4	TAF1	chr7:19812670-19813597	H1-neurons	neurons:	n/a	n/a
5	REST	chr7:19812326-19813132	U87	brain:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923
6	REST	chr7:19812440-19813050	SK-N-SH	brain:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923
7	REST	chr7:19812240-19813052	A549	lung:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923
8	REST	chr7:19812197-19813268	PANC-1	pancreas:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19813152-19813165 chr7:19812913-19812923
9	REST	chr7:19812328-19813130	U87	brain:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923
10	REST	chr7:19812288-19813205	HL-60	blood:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19813152-19813165 chr7:19812913-19812923
11	JUND	chr7:19812487-19813387	H1-hESC	embryonic stem cell:	n/a	chr7:19812617-19812631
12	CREB1	chr7:19812810-19813571	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3AK20	chr7:19812403-19813089	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3AK20	chr7:19812481-19813033	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:19811640-19813510	H1-neurons	neurons:	n/a	n/a
16	CEBPB	chr7:19812441-19813070	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr7:19812383-19813043	H1-hESC	embryonic stem cell:	n/a	chr7:19812517-19812531
18	REST	chr7:19812163-19813312	ECC-1	luminal epithelium:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19813152-19813165 chr7:19812913-19812923
19	REST	chr7:19812313-19813041	PFSK-1	brain:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923
20	REST	chr7:19812398-19813128	HL-60	blood:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923
21	MXI1	chr7:19812530-19813235	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr7:19811609-19813496	H1-neurons	neurons:	n/a	n/a
23	CREB1	chr7:19812837-19813489	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTBP2	chr7:19812282-19813636	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr7:19812395-19813319	H1-hESC	embryonic stem cell:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19813152-19813165 chr7:19812913-19812923
26	REST	chr7:19812080-19813216	PANC-1	pancreas:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19813152-19813165 chr7:19812913-19812923
27	REST	chr7:19812419-19813066	HepG2	liver:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923
28	REST	chr7:19812206-19813212	ECC-1	luminal epithelium:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19813152-19813165 chr7:19812913-19812923
29	REST	chr7:19812456-19813022	U87	brain:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923
30	REST	chr7:19812346-19813093	PFSK-1	brain:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923
31	REST	chr7:19812123-19813295	A549	lung:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19813152-19813165 chr7:19812913-19812923
32	ZNF263	chr7:19812111-19813151	HEK293-T-REx	kidney:	n/a	chr7:19813013-19813022
33	REST	chr7:19812341-19813075	SK-N-SH	brain:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923
34	TAF1	chr7:19811940-19813407	H1-neurons	neurons:	n/a	n/a
35	REST	chr7:19812130-19813327	H1-hESC	embryonic stem cell:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19813152-19813165 chr7:19812913-19812923
36	SIN3A	chr7:19811749-19813519	H1-hESC	embryonic stem cell:	n/a	chr7:19812659-19812672 chr7:19812664-19812678 chr7:19813152-19813165 chr7:19812656-19812665
37	ZNF143	chr7:19812471-19813123	H1-hESC	embryonic stem cell:	n/a	n/a
38	REST	chr7:19811647-19813838	H1-neurons	neurons:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19813152-19813165 chr7:19812913-19812923
39	REST	chr7:19812469-19813044	K562	blood:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19812913-19812923

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:19813001-19813051	CMK	blood:	n/a
2	chr7:19813001-19813051	NH-A	brain:	n/a
3	chr7:19813001-19813051	BJ	skin:	n/a
4	chr7:19813001-19813051	NB4	blood:	n/a
5	chr7:19813001-19813051	GM12878	blood:	n/a
6	chr7:19813001-19813051	PFSK-1	brain:	n/a
7	chr7:19813001-19813051	ECC-1	luminal epithelium:	n/a
8	chr7:19813001-19813051	MCF-7	breast:	n/a
9	chr7:19813001-19813051	Caco-2	colon:	n/a
10	chr7:19813001-19813051	HCM	heart:	n/a
11	chr7:19813001-19813051	SK-N-SH_RA	brain:	n/a
12	chr7:19813001-19813051	SKMC	muscle:	n/a
13	chr7:19813001-19813051	HCF	heart:	n/a
14	chr7:19813001-19813051	AG10803	skin:	n/a
15	chr7:19813001-19813051	ProgFib	skin:	n/a
16	chr7:19813001-19813051	SK-N-MC	brain:	n/a
17	chr7:19813001-19813051	NT2-D1	testis:	n/a
18	chr7:19813001-19813051	GM12891	blood:	n/a
19	chr7:19813001-19813051	HIPEpiC	eye:	n/a
20	chr7:19813001-19813051	HRCEpiC	kidney:	n/a
21	chr7:19813001-19813051	HEEpiC	esophagus:	n/a
22	chr7:19813001-19813051	PrEC	prostate:	n/a
23	chr7:19813001-19813051	HL-60	blood:	n/a
24	chr7:19813001-19813051	GM19239	blood:	n/a
25	chr7:19813001-19813051	HRE	kidney:	n/a
26	chr7:19813001-19813051	SK-N-SH	brain:	n/a
27	chr7:19813001-19813051	AG09319	gingival:	n/a
28	chr7:19813001-19813051	LNCaP	prostate:	n/a
29	chr7:19813001-19813051	AG04450	lung:	fetal
30	chr7:19813001-19813051	HCPEpiC	choroid plexus:	n/a
31	chr7:19813001-19813051	SAEC	small airway:	n/a
32	chr7:19813001-19813051	HCT-116	colon:	n/a
33	chr7:19813001-19813051	HUVEC	blood vessel:	n/a
34	chr7:19813001-19813051	AoSMC	blood vessel:	n/a
35	chr7:19813001-19813051	HAEpiC	amniotic membrane:	n/a
36	chr7:19813001-19813051	NHDF-neo	bronchial:	n/a
37	chr7:19813001-19813051	AG04449	skin:	fetal
38	chr7:19813001-19813051	H1-hESC	embryonic stem cell:	embryo
39	chr7:19813001-19813051	GM06990	blood:	n/a
40	chr7:19813001-19813051	AG09309	skin:	n/a
41	chr7:19813001-19813051	PANC-1	pancreas:	n/a
42	chr7:19813001-19813051	U87	brain:	n/a
43	chr7:19813001-19813051	K562	blood:	n/a
44	chr7:19813001-19813051	Hela-S3	cervix:	n/a
45	chr7:19813001-19813051	HRPEpiC	eye:	n/a
46	chr7:19813001-19813051	RPTEC	kidney:	n/a
47	chr7:19813001-19813051	BE2_C	brain:	n/a
48	chr7:19813001-19813051	NHBE	bronchial:	n/a
49	chr7:19813001-19813051	MCF10A-Er-Src	breast:	n/a
50	chr7:19813001-19813051	ovcar-3	ovarian:	n/a

Variant related genes	Relation type
TMEM196	TF binding region
TMEM196	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10260360	0.87[EUR][1000 genomes]
rs10260527	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10263564	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12334001	0.85[ASN][1000 genomes]
rs12666159	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12672320	0.84[ASN][1000 genomes]
rs12672557	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13230910	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13231036	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13233821	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28605851	0.83[ASN][1000 genomes]
rs2892940	0.87[EUR][1000 genomes]
rs4719584	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4721825	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57916046	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6945297	0.84[ASN][1000 genomes]
rs6945533	0.85[ASN][1000 genomes]
rs6945753	0.85[ASN][1000 genomes]
rs6974669	0.87[EUR][1000 genomes]
rs6977660	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs714238	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs714239	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7779902	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7791038	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7812001	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv830918	chr7:19747674-19914527	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv1847477	chr7:19778086-19970584	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19809600-19813600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:19811200-19813400	Active TSS	Fetal Brain Female	brain
3	chr7:19811400-19813600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
4	chr7:19811600-19813600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:19811800-19813200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:19811800-19813400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:19811800-19813600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:19811800-19813600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:19811800-19813600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:19812000-19813200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr7:19812000-19813200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:19812000-19813200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:19812000-19813200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:19812000-19813200	Active TSS	Fetal Brain Male	brain
15	chr7:19812000-19813200	Enhancers	Fetal Heart	heart
16	chr7:19812000-19813200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
17	chr7:19812000-19813200	Active TSS	A549	lung
18	chr7:19812000-19813200	Flanking Bivalent TSS/Enh	NHEK	skin
19	chr7:19812000-19813400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:19812000-19813400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr7:19812000-19813400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr7:19812000-19813400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:19812000-19813400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr7:19812000-19813600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:19812000-19813600	Enhancers	Ovary	ovary
26	chr7:19812000-19813600	Enhancers	Pancreas	Pancrea
27	chr7:19812200-19813200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:19812200-19813200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:19812200-19813200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr7:19812200-19813200	Enhancers	Lung	lung
31	chr7:19812200-19813200	Bivalent/Poised TSS	NHLF	lung
32	chr7:19812200-19813400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:19812200-19813400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr7:19812200-19813400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:19812200-19813400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr7:19812200-19813400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:19812200-19813400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr7:19812200-19813400	Bivalent Enhancer	Placenta	Placenta
39	chr7:19812200-19813400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr7:19812200-19813600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:19812400-19813200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:19812400-19813200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
43	chr7:19812400-19813200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr7:19812400-19813200	Active TSS	Right Atrium	heart
45	chr7:19812400-19813200	Bivalent Enhancer	Spleen	Spleen
46	chr7:19812400-19813200	Flanking Bivalent TSS/Enh	HMEC	breast
47	chr7:19812400-19813400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr7:19812400-19813400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
49	chr7:19812400-19813600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:19812600-19813200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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