Variant report

Variant	rs193163628
Chromosome Location	chr1:210110800-210110801
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	chr1:210110760-210111306	PFSK-1	brain:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
2	SIN3AK20	chr1:210110720-210111325	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:210110641-210112159	H1-neurons	neurons:	n/a	n/a
4	REST	chr1:210110668-210111510	K562	blood:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
5	REST	chr1:210110703-210111322	A549	lung:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
6	REST	chr1:210110747-210111323	Hela-S3	cervix:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
7	REST	chr1:210110712-210111317	Hela-S3	cervix:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
8	REST	chr1:210110748-210110866	GM12878	blood:	n/a	n/a
9	REST	chr1:210110459-210111899	PFSK-1	brain:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
10	REST	chr1:210110687-210111901	SK-N-SH	brain:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
11	REST	chr1:210110454-210112019	SK-N-SH	brain:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111898-210111905 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
12	REST	chr1:210110783-210111431	MCF-7	breast:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
13	REST	chr1:210110737-210111331	HepG2	liver:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
14	REST	chr1:210110656-210112046	U87	brain:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111898-210111905 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
15	REST	chr1:210110700-210111281	HCT-116	colon:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
16	REST	chr1:210110744-210111328	K562	blood:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
17	JUND	chr1:210110209-210112774	SK-N-SH	brain:	n/a	chr1:210111772-210111781
18	KAP1	chr1:210110736-210111176	HEK293	kidney:	n/a	n/a
19	REST	chr1:210110524-210111516	HL-60	blood:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
20	MXI1	chr1:210110276-210113314	SK-N-SH	brain:	n/a	n/a
21	REST	chr1:210110643-210111333	H1-hESC	embryonic stem cell:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
22	REST	chr1:210110651-210112405	H1-neurons	neurons:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111898-210111905 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
23	MAX	chr1:210110774-210111642	H1-hESC	embryonic stem cell:	n/a	chr1:210111382-210111391
24	POLR2A	chr1:210110779-210110885	Gliobla	brain:	n/a	n/a
25	REST	chr1:210110401-210111450	A549	lung:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
26	POLR2A	chr1:210110712-210112001	H1-neurons	neurons:	n/a	n/a
27	REST	chr1:210110459-210111476	ECC-1	luminal epithelium:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
28	CEBPB	chr1:210110630-210111234	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr1:210110708-210111462	GM12878	blood:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
30	REST	chr1:210110709-210111923	SK-N-SH	brain:	n/a	chr1:210111586-210111599 chr1:210111898-210111905 chr1:210111591-210111604 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111694-210111707 chr1:210111130-210111139 chr1:210111131-210111145 chr1:210111125-210111145 chr1:210111126-210111144
31	CTCF	chr1:210110740-210110890	HA-sp	spinal cord:	n/a	n/a
32	MXI1	chr1:210110725-210111987	IMR90	lung:	n/a	n/a
33	SIN3A	chr1:210110712-210112273	H1-hESC	embryonic stem cell:	n/a	chr1:210111777-210111788 chr1:210111703-210111716 chr1:210111130-210111144 chr1:210111586-210111599 chr1:210111129-210111139
34	REST	chr1:210110656-210112056	U87	brain:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111898-210111905 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
35	JUND	chr1:210110786-210111724	H1-hESC	embryonic stem cell:	n/a	n/a
36	REST	chr1:210110628-210111845	H1-hESC	embryonic stem cell:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
37	REST	chr1:210110637-210111452	PANC-1	pancreas:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
38	REST	chr1:210110570-210111760	ECC-1	luminal epithelium:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
39	REST	chr1:210110707-210111421	HepG2	liver:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
40	REST	chr1:210110555-210111318	PFSK-1	brain:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
41	REST	chr1:210110697-210112002	U87	brain:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111898-210111905 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
42	REST	chr1:210110666-210111308	HCT-116	colon:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
43	YY1	chr1:210110732-210111924	H1-hESC	embryonic stem cell:	n/a	chr1:210111706-210111720 chr1:210111908-210111917 chr1:210111909-210111923 chr1:210111856-210111867
44	REST	chr1:210110589-210111296	PANC-1	pancreas:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
45	REST	chr1:210110506-210111736	PFSK-1	brain:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
46	REST	chr1:210110628-210111367	MCF-7	breast:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
47	REST	chr1:210110707-210111346	U87	brain:	n/a	chr1:210111126-210111144 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IRF6-1	chr1:210107873-210111294	NONHSAT009248

Variant related genes	Relation type
SYT14	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1825811	chr1:210082206-210135806	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3438109	chr1:210110354-210112902	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210110200-210112400	Active TSS	Brain Anterior Caudate	brain
2	chr1:210110200-210112800	Active TSS	Brain Angular Gyrus	brain
3	chr1:210110400-210110800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:210110400-210111200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:210110400-210112400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:210110400-210112800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr1:210110400-210112800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:210110600-210110800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:210110600-210110800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:210110600-210110800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:210110600-210110800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:210110600-210110800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:210110600-210110800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:210110600-210110800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:210110600-210110800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:210110600-210110800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:210110600-210110800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:210110600-210110800	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr1:210110600-210110800	Enhancers	Brain Substantia Nigra	brain
20	chr1:210110600-210110800	Enhancers	HSMM	muscle
21	chr1:210110600-210110800	Bivalent Enhancer	HUVEC	blood vessel
22	chr1:210110600-210110800	Active TSS	NHEK	skin
23	chr1:210110600-210111000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:210110600-210111000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:210110600-210111000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:210110600-210111000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:210110600-210111000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:210110600-210111000	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr1:210110600-210111000	Flanking Active TSS	Fetal Brain Male	brain
30	chr1:210110600-210111000	Flanking Active TSS	HMEC	breast
31	chr1:210110600-210111000	Flanking Active TSS	NH-A	brain
32	chr1:210110600-210111000	Flanking Active TSS	NHDF-Ad	bronchial
33	chr1:210110600-210111200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr1:210110600-210111200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:210110600-210111600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:210110600-210111600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:210110600-210112000	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:210110600-210112000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:210110600-210112000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:210110600-210112000	Active TSS	Brain Cingulate Gyrus	brain
41	chr1:210110600-210112200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:210110600-210112200	Bivalent/Poised TSS	Osteobl	bone
43	chr1:210110600-210112400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr1:210110600-210112600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:210110600-210112800	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr1:210110600-210113000	Active TSS	Fetal Brain Female	brain
47	chr1:210110600-210113200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:210110800-210111000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:210110800-210111000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:210110800-210111000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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