Variant report

Variant	rs189929205
Chromosome Location	chr1:57890460-57890461
allele	G/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	MAZ	chr1:57890250-57890498	HepG2	liver:	n/a	chr1:57890353-57890362
2	CTCF	chr1:57890271-57890465	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
3	CTCF	chr1:57890360-57890510	HCM	heart:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
4	CTCF	chr1:57890213-57890569	ProgFib	skin:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
5	MAX	chr1:57890294-57890494	HepG2	liver:	n/a	chr1:57890353-57890362
6	FOXP2	chr1:57890241-57890665	PFSK-1	brain:	n/a	n/a
7	SMC3	chr1:57890311-57890489	HepG2	liver:	n/a	chr1:57890368-57890378 chr1:57890367-57890381 chr1:57890321-57890329
8	TEAD4	chr1:57890146-57890599	H1-hESC	embryonic stem cell:	n/a	n/a
9	KAP1	chr1:57890307-57890767	U2OS	brain:	n/a	n/a
10	MAX	chr1:57890010-57890728	H1-hESC	embryonic stem cell:	n/a	chr1:57890091-57890101 chr1:57890353-57890362
11	RAD21	chr1:57890157-57890513	HepG2	liver:	n/a	chr1:57890366-57890385
12	RCOR1	chr1:57890341-57890540	HepG2	liver:	n/a	n/a
13	HDAC2	chr1:57890197-57890518	HepG2	liver:	n/a	n/a
14	MAX	chr1:57890040-57890799	H1-hESC	embryonic stem cell:	n/a	chr1:57890091-57890101 chr1:57890353-57890362
15	CTCF	chr1:57890259-57890501	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
16	CTCF	chr1:57890320-57890470	HRPEpiC	eye:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
17	CTCF	chr1:57890340-57890490	RPTEC	kidney:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
18	RAD21	chr1:57890223-57890594	A549	lung:	n/a	chr1:57890366-57890385
19	POLR2A	chr1:57887588-57890834	PFSK-1	brain:	n/a	n/a
20	SIN3A	chr1:57890047-57890737	H1-hESC	embryonic stem cell:	n/a	chr1:57890384-57890395
21	CTCF	chr1:57890320-57890470	SK-N-SH_RA	brain:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
22	CTCF	chr1:57890229-57890508	H1-hESC	embryonic stem cell:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
23	CTCF	chr1:57890109-57890587	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
24	MAX	chr1:57890100-57890659	SK-N-SH	brain:	n/a	chr1:57890353-57890362
25	CTCF	chr1:57890244-57890505	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
26	POLR2A	chr1:57889311-57890582	H1-neurons	neurons:	n/a	n/a
27	RAD21	chr1:57889948-57890657	IMR90	lung:	n/a	chr1:57890366-57890385
28	USF1	chr1:57890208-57890677	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr1:57890420-57890570	HAc	cerebellar:	n/a	n/a
30	CTCF	chr1:57890226-57890476	SK-N-SH_RA	brain:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
31	CTCF	chr1:57890320-57890470	HepG2	liver:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
32	CHD2	chr1:57890192-57890666	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr1:57890215-57890530	Fibrobl	skin:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
34	MAZ	chr1:57890034-57890834	IMR90	lung:	n/a	chr1:57890091-57890101 chr1:57890353-57890362
35	CTCF	chr1:57890360-57890510	WI-38	lung:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
36	CTCF	chr1:57890238-57890463	HepG2	liver:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
37	SMC3	chr1:57890231-57890475	K562	blood:	n/a	chr1:57890368-57890378 chr1:57890367-57890381 chr1:57890321-57890329
38	SIN3AK20	chr1:57890166-57890475	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr1:57890320-57890470	HA-sp	spinal cord:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
40	REST	chr1:57889669-57890640	H1-neurons	neurons:	n/a	chr1:57889708-57889721 chr1:57890217-57890230
41	CTCF	chr1:57890257-57890481	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
42	BHLHE40	chr1:57890226-57890640	HepG2	liver:	n/a	n/a
43	CTCF	chr1:57890320-57890470	HUVEC	blood vessel:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
44	SETDB1	chr1:57890196-57890552	U2OS	brain:	n/a	n/a
45	MAX	chr1:57890065-57890659	SK-N-SH	brain:	n/a	chr1:57890091-57890101 chr1:57890353-57890362
46	FOXA1	chr1:57890229-57890695	HepG2	liver:	n/a	n/a
47	MAX	chr1:57890126-57890731	H1-hESC	embryonic stem cell:	n/a	chr1:57890353-57890362
48	MAX	chr1:57890250-57890555	MCF-7	breast:	n/a	chr1:57890353-57890362
49	GTF2F1	chr1:57890219-57890472	H1-hESC	embryonic stem cell:	n/a	n/a
50	SIN3AK20	chr1:57890188-57890548	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
DAB1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3379485	chr1:57888389-57891237	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57885800-57890800	Active TSS	Fetal Brain Female	brain
2	chr1:57886800-57890800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:57887200-57890600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:57887200-57890600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:57887200-57890600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:57887200-57890800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:57887400-57890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:57887400-57890600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:57887400-57890600	Active TSS	Right Atrium	heart
10	chr1:57887400-57890800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:57887600-57890600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:57887600-57890600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:57887600-57890800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:57887600-57890800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:57887600-57891600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:57887800-57890600	Bivalent/Poised TSS	NH-A	brain
17	chr1:57887800-57890800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:57887800-57890800	Bivalent/Poised TSS	NHLF	lung
19	chr1:57888000-57890600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:57888000-57890600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:57888000-57890600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
22	chr1:57888200-57890600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr1:57888400-57890600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:57888400-57890600	Active TSS	Fetal Heart	heart
25	chr1:57888400-57891000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:57888600-57890800	Active TSS	Brain Angular Gyrus	brain
27	chr1:57888600-57890800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
28	chr1:57888800-57890600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr1:57888800-57890800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:57888800-57890800	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:57889000-57890600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
32	chr1:57889000-57890800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
33	chr1:57889200-57890600	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr1:57889200-57890600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
35	chr1:57889200-57890800	Bivalent/Poised TSS	A549	lung
36	chr1:57889400-57890600	Active TSS	Aorta	Aorta
37	chr1:57889400-57890600	Active TSS	Rectal Smooth Muscle	rectum
38	chr1:57889400-57890600	Flanking Bivalent TSS/Enh	HMEC	breast
39	chr1:57889600-57890600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
40	chr1:57889600-57890600	Bivalent Enhancer	Esophagus	oesophagus
41	chr1:57889600-57890800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:57889600-57890800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:57889600-57890800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
44	chr1:57889600-57890800	Active TSS	Right Ventricle	heart
45	chr1:57889800-57890600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr1:57889800-57890600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
47	chr1:57889800-57890600	Bivalent Enhancer	Spleen	Spleen
48	chr1:57890000-57890600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:57890000-57890600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:57890000-57890600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--

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