Variant report

Variant	rs185787828
Chromosome Location	chr3:49592547-49592548
allele	C/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	TAF1	chr3:49592117-49592560	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr3:49591575-49592555	U87	brain:	n/a	n/a
3	MYC	chr3:49592520-49592589	HepG2	liver:	n/a	n/a
4	REST	chr3:49591668-49592709	HepG2	liver:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
5	REST	chr3:49590593-49593431	HL-60	blood:	n/a	chr3:49591201-49591211 chr3:49590761-49590779 chr3:49592639-49592653 chr3:49590764-49590777 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
6	REST	chr3:49591469-49592776	U87	brain:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
7	REST	chr3:49591481-49592787	GM12878	blood:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
8	MAX	chr3:49592466-49592761	K562	blood:	n/a	n/a
9	REST	chr3:49591558-49592740	SK-N-SH	brain:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
10	REST	chr3:49591648-49592672	H1-hESC	embryonic stem cell:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
11	REST	chr3:49591520-49592852	PFSK-1	brain:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
12	MAX	chr3:49591123-49592666	HepG2	liver:	n/a	chr3:49591131-49591141
13	REST	chr3:49591580-49592761	HCT-116	colon:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
14	REST	chr3:49591543-49592638	U87	brain:	n/a	n/a
15	REST	chr3:49591656-49592550	PANC-1	pancreas:	n/a	n/a
16	REST	chr3:49591563-49592704	PFSK-1	brain:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
17	REST	chr3:49590783-49593080	H1-neurons	neurons:	n/a	chr3:49591201-49591211 chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
18	REST	chr3:49591561-49592716	PANC-1	pancreas:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
19	REST	chr3:49591717-49592548	GM12878	blood:	n/a	n/a
20	REST	chr3:49591654-49592699	Hela-S3	cervix:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
21	SIN3A	chr3:49591074-49592777	H1-hESC	embryonic stem cell:	n/a	chr3:49592638-49592652 chr3:49591201-49591210
22	REST	chr3:49591397-49592840	PFSK-1	brain:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
23	POLR2A	chr3:49592366-49592880	H1-neurons	neurons:	n/a	n/a
24	REST	chr3:49591496-49592812	ECC-1	luminal epithelium:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
25	REST	chr3:49591677-49592695	H1-hESC	embryonic stem cell:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
26	CTCF	chr3:49592440-49592590	HBMEC	blood vessel:	n/a	n/a
27	REST	chr3:49592072-49592728	PANC-1	pancreas:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
28	REST	chr3:49591710-49592697	A549	lung:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
29	REST	chr3:49591722-49592688	GM12878	blood:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
30	REST	chr3:49591486-49592722	HL-60	blood:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
31	REST	chr3:49591360-49592850	A549	lung:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
32	MXI1	chr3:49591164-49592775	IMR90	lung:	n/a	n/a
33	REST	chr3:49591593-49592658	HepG2	liver:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
34	REST	chr3:49591580-49592669	PANC-1	pancreas:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
35	MXI1	chr3:49591823-49592620	H1-hESC	embryonic stem cell:	n/a	n/a
36	REST	chr3:49591414-49592745	SK-N-SH	brain:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
37	REST	chr3:49591438-49592776	U87	brain:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
38	REST	chr3:49591569-49592763	K562	blood:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
39	REST	chr3:49591597-49592659	MCF-7	breast:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
40	MAX	chr3:49591400-49592557	ECC-1	luminal epithelium:	n/a	n/a
41	REST	chr3:49591622-49592776	PANC-1	pancreas:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
42	REST	chr3:49591466-49592790	HCT-116	colon:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
43	REST	chr3:49591472-49592836	ECC-1	luminal epithelium:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
44	UBTF	chr3:49591960-49592613	K562	blood:	n/a	n/a
45	REST	chr3:49591459-49592730	HepG2	liver:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
46	MAX	chr3:49591059-49592752	HepG2	liver:	n/a	chr3:49591131-49591141
47	MAX	chr3:49591460-49592753	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZBTB7A	chr3:49591359-49592610	ECC-1	luminal epithelium:	n/a	chr3:49592398-49592409 chr3:49592399-49592410 chr3:49591880-49591889 chr3:49591434-49591445

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:49592529-49592579	MCF-7	breast:	n/a
2	chr3:49592529-49592579	NH-A	brain:	n/a
3	chr3:49592529-49592579	BJ	skin:	n/a
4	chr3:49592529-49592579	HIPEpiC	eye:	n/a
5	chr3:49592529-49592579	H1-hESC	embryonic stem cell:	embryo
6	chr3:49592529-49592579	HCF	heart:	n/a
7	chr3:49592529-49592579	SK-N-SH_RA	brain:	n/a
8	chr3:49592529-49592579	NHDF-neo	bronchial:	n/a
9	chr3:49592529-49592579	MCF10A-Er-Src	breast:	n/a
10	chr3:49592529-49592579	NT2-D1	testis:	n/a
11	chr3:49592529-49592579	BE2_C	brain:	n/a
12	chr3:49592529-49592579	HCM	heart:	n/a
13	chr3:49592529-49592579	HUVEC	blood vessel:	n/a
14	chr3:49592529-49592579	LNCaP	prostate:	n/a
15	chr3:49592529-49592579	NHBE	bronchial:	n/a
16	chr3:49592529-49592579	AG04449	skin:	fetal
17	chr3:49592529-49592579	HCT-116	colon:	n/a
18	chr3:49592529-49592579	HL-60	blood:	n/a
19	chr3:49592529-49592579	HRCEpiC	kidney:	n/a
20	chr3:49592529-49592579	AG09319	gingival:	n/a
21	chr3:49592529-49592579	HEEpiC	esophagus:	n/a
22	chr3:49592529-49592579	SK-N-MC	brain:	n/a
23	chr3:49592529-49592579	HNPCEpiC	eye:	n/a
24	chr3:49592529-49592579	Hela-S3	cervix:	n/a
25	chr3:49592529-49592579	Hepatocyte	liver:	n/a
26	chr3:49592529-49592579	GM19239	blood:	n/a
27	chr3:49592529-49592579	AG10803	skin:	n/a
28	chr3:49592529-49592579	HepG2	liver:	n/a
29	chr3:49592529-49592579	AoSMC	blood vessel:	n/a
30	chr3:49592529-49592579	HAEpiC	amniotic membrane:	n/a
31	chr3:49592529-49592579	HEK293	kidney:	embryo
32	chr3:49592529-49592579	NB4	blood:	n/a
33	chr3:49592529-49592579	T-47D	breast:	n/a
34	chr3:49592529-49592579	PrEC	prostate:	n/a
35	chr3:49592529-49592579	SAEC	small airway:	n/a
36	chr3:49592529-49592579	HRE	kidney:	n/a
37	chr3:49592529-49592579	SKMC	muscle:	n/a
38	chr3:49592529-49592579	GM12891	blood:	n/a
39	chr3:49592529-49592579	U87	brain:	n/a
40	chr3:49592529-49592579	HMEC	breast:	n/a
41	chr3:49592529-49592579	Jurkat	blood:	n/a
42	chr3:49592529-49592579	RPTEC	kidney:	n/a
43	chr3:49592529-49592579	GM12892	blood:	n/a
44	chr3:49592529-49592579	HRPEpiC	eye:	n/a
45	chr3:49592529-49592579	ECC-1	luminal epithelium:	n/a
46	chr3:49592529-49592579	CMK	blood:	n/a
47	chr3:49592529-49592579	SK-N-SH	brain:	n/a
48	chr3:49592529-49592579	ProgFib	skin:	n/a
49	chr3:49592529-49592579	GM12878	blood:	n/a
50	chr3:49592529-49592579	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49590547..49592695-chr3:49709214..49711684,3	MCF-7	breast:
2	chr3:49591933..49593774-chr3:49706277..49708341,2	MCF-7	breast:

Variant related genes	Relation type
BSN-AS2	TF binding region
BSN-AS2	CpG island
ENSG00000164062	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3325224	chr3:49590473-49593321	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49591000-49592800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr3:49591200-49592600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:49591200-49592600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr3:49591200-49592600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:49591200-49592600	Active TSS	Fetal Brain Female	brain
6	chr3:49591200-49592800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
7	chr3:49591400-49592600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:49591400-49592600	Active TSS	Rectal Smooth Muscle	rectum
9	chr3:49591400-49592600	Active TSS	HSMM	muscle
10	chr3:49591400-49592800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr3:49591400-49594400	Active TSS	Brain Anterior Caudate	brain
12	chr3:49591600-49592600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:49591600-49592600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:49591600-49592600	Active TSS	Hela-S3	cervix
15	chr3:49591600-49592800	Active TSS	Fetal Kidney	kidney
16	chr3:49591600-49592800	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr3:49591600-49592800	Active TSS	HSMMtube	muscle
18	chr3:49591600-49594400	Active TSS	Brain Angular Gyrus	brain
19	chr3:49591800-49592600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:49591800-49592800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr3:49591800-49592800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:49591800-49592800	Enhancers	Fetal Heart	heart
23	chr3:49591800-49593000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr3:49592000-49592800	Enhancers	Esophagus	oesophagus
25	chr3:49592200-49592600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr3:49592200-49592600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:49592200-49592600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
28	chr3:49592200-49592600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:49592200-49592600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr3:49592200-49592600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
31	chr3:49592200-49592600	Flanking Active TSS	Placenta	Placenta
32	chr3:49592200-49592600	Flanking Active TSS	Lung	lung
33	chr3:49592200-49592600	Flanking Active TSS	Pancreas	Pancrea
34	chr3:49592200-49592600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr3:49592200-49592800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr3:49592200-49592800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:49592200-49592800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:49592200-49592800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:49592200-49592800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:49592200-49592800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr3:49592200-49592800	Flanking Active TSS	Liver	Liver
42	chr3:49592200-49592800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr3:49592200-49592800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr3:49592200-49592800	Bivalent/Poised TSS	Thymus	Thymus
45	chr3:49592200-49592800	Flanking Active TSS	Dnd41	blood
46	chr3:49592200-49593000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr3:49592200-49593000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr3:49592200-49593400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:49592400-49592600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr3:49592400-49592600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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