Variant report

Variant	rs186899217
Chromosome Location	chr1:215740108-215740109
allele	A/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	GATA3	chr1:215740063-215740957	SK-N-SH	brain:	n/a	n/a
2	BRCA1	chr1:215740073-215740146	H1-hESC	embryonic stem cell:	n/a	n/a
3	NR2F2	chr1:215739989-215740944	K562	blood:	n/a	n/a
4	MXI1	chr1:215739872-215741847	IMR90	lung:	n/a	n/a
5	POLR2A	chr1:215740061-215741717	PFSK-1	brain:	n/a	n/a
6	TBP	chr1:215740037-215742064	K562	blood:	n/a	n/a
7	SP1	chr1:215740049-215740909	A549	lung:	n/a	chr1:215740494-215740501 chr1:215740492-215740506 chr1:215740860-215740869 chr1:215740859-215740871
8	RCOR1	chr1:215740053-215740885	K562	blood:	n/a	n/a
9	MXI1	chr1:215739867-215742249	SK-N-SH	brain:	n/a	n/a
10	E2F4	chr1:215739863-215740811	MCF10A-Er-Src	breast:	n/a	chr1:215740024-215740033
11	TBP	chr1:215740065-215740792	Hela-S3	cervix:	n/a	n/a
12	SIN3AK20	chr1:215739914-215741882	MCF-7	breast:	n/a	n/a
13	FOXA1	chr1:215740096-215740654	HepG2	liver:	n/a	chr1:215740192-215740204 chr1:215740386-215740401
14	CHD1	chr1:215739972-215741689	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:215740035-215741671	H1-hESC	embryonic stem cell:	n/a	n/a
16	GATA3	chr1:215740093-215741582	T-47D	breast:	n/a	n/a
17	POLR2A	chr1:215739773-215742328	MCF10A-Er-Src	breast:	n/a	n/a
18	MAZ	chr1:215740102-215742280	K562	blood:	n/a	chr1:215740902-215740912
19	GATA3	chr1:215740079-215740892	A549	lung:	n/a	n/a
20	TCF12	chr1:215740022-215741002	A549	lung:	n/a	n/a
21	POLR2A	chr1:215740094-215741523	GM18505	blood:	n/a	n/a
22	POLR2A	chr1:215740020-215741838	GM12891	blood:	n/a	n/a
23	FOXA1	chr1:215740096-215740684	HepG2	liver:	n/a	chr1:215740192-215740204 chr1:215740386-215740401
24	MYC	chr1:215740015-215740757	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr1:215739856-215742151	Hela-S3	cervix:	n/a	n/a
26	GATA3	chr1:215740045-215741599	MCF-7	breast:	n/a	n/a
27	MYC	chr1:215739930-215741778	K562	blood:	n/a	chr1:215740902-215740912
28	RCOR1	chr1:215740102-215741290	GM12878	blood:	n/a	n/a
29	CEBPB	chr1:215740060-215740887	Hela-S3	cervix:	n/a	n/a
30	MAFK	chr1:215740013-215740726	Hela-S3	cervix:	n/a	chr1:215740263-215740274 chr1:215740262-215740276
31	STAT3	chr1:215740036-215740409	MCF10A-Er-Src	breast:	n/a	n/a
32	SIN3AK20	chr1:215740011-215741942	MCF-7	breast:	n/a	n/a
33	RFX5	chr1:215740062-215742046	Hela-S3	cervix:	n/a	chr1:215740139-215740148
34	FOXA2	chr1:215739913-215740807	HepG2	liver:	n/a	chr1:215740055-215740067 chr1:215740192-215740204
35	ZNF263	chr1:215740090-215741749	HEK293-T-REx	kidney:	n/a	chr1:215740631-215740640 chr1:215741156-215741165 chr1:215740637-215740646 chr1:215740620-215740641 chr1:215740709-215740718 chr1:215740991-215741000 chr1:215740634-215740643 chr1:215740610-215740619 chr1:215740513-215740522
36	POLR2A	chr1:215740063-215741852	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:215740032-215741930	K562	blood:	n/a	n/a
38	NR2F2	chr1:215740090-215741590	MCF-7	breast:	n/a	n/a
39	CUX1	chr1:215739898-215740212	GM12878	blood:	n/a	n/a
40	GATA3	chr1:215739899-215740902	MCF-7	breast:	n/a	n/a
41	REST	chr1:215740105-215741740	H1-neurons	neurons:	n/a	chr1:215740610-215740623 chr1:215741358-215741367
42	POLR2A	chr1:215740100-215740891	SK-N-MC	brain:	n/a	n/a
43	EP300	chr1:215739894-215740898	K562	blood:	n/a	chr1:215740861-215740877
44	JUND	chr1:215740062-215740899	T-47D	breast:	n/a	n/a
45	FOXA1	chr1:215740108-215740610	HepG2	liver:	n/a	chr1:215740192-215740204 chr1:215740386-215740401
46	NR2F2	chr1:215739864-215740921	MCF-7	breast:	n/a	n/a
47	IRF1	chr1:215739927-215740868	K562	blood:	n/a	chr1:215740487-215740497 chr1:215740518-215740538 chr1:215740200-215740212 chr1:215740177-215740190
48	STAT3	chr1:215739712-215740215	MCF10A-Er-Src	breast:	n/a	n/a
49	FOXA2	chr1:215740094-215740763	A549	lung:	n/a	chr1:215740192-215740204

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:215740071-215740121	HCPEpiC	choroid plexus:	n/a
2	chr1:215740071-215740121	SK-N-SH	brain:	n/a
3	chr1:215740071-215740121	Hepatocyte	liver:	n/a
4	chr1:215740071-215740121	HIPEpiC	eye:	n/a
5	chr1:215740071-215740121	LNCaP	prostate:	n/a
6	chr1:215740071-215740121	NHBE	bronchial:	n/a
7	chr1:215740071-215740121	ECC-1	luminal epithelium:	n/a
8	chr1:215740071-215740121	MCF-7	breast:	n/a
9	chr1:215740071-215740121	SK-N-SH_RA	brain:	n/a
10	chr1:215740071-215740121	GM06990	blood:	n/a
11	chr1:215740071-215740121	RPTEC	kidney:	n/a
12	chr1:215740071-215740121	AG09309	skin:	n/a
13	chr1:215740071-215740121	PFSK-1	brain:	n/a
14	chr1:215740071-215740121	AG10803	skin:	n/a
15	chr1:215740071-215740121	H1-hESC	embryonic stem cell:	embryo
16	chr1:215740071-215740121	PrEC	prostate:	n/a
17	chr1:215740071-215740121	U87	brain:	n/a
18	chr1:215740071-215740121	HMEC	breast:	n/a
19	chr1:215740071-215740121	HCF	heart:	n/a
20	chr1:215740071-215740121	AoSMC	blood vessel:	n/a
21	chr1:215740071-215740121	HCT-116	colon:	n/a
22	chr1:215740071-215740121	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:215740071-215740121	A549	lung:	n/a
24	chr1:215740071-215740121	NHDF-neo	bronchial:	n/a
25	chr1:215740071-215740121	K562	blood:	n/a
26	chr1:215740071-215740121	GM12892	blood:	n/a
27	chr1:215740071-215740121	AG04450	lung:	fetal
28	chr1:215740071-215740121	Caco-2	colon:	n/a
29	chr1:215740071-215740121	HEK293	kidney:	embryo
30	chr1:215740071-215740121	HUVEC	blood vessel:	n/a
31	chr1:215740071-215740121	BJ	skin:	n/a
32	chr1:215740071-215740121	PANC-1	pancreas:	n/a
33	chr1:215740071-215740121	SAEC	small airway:	n/a
34	chr1:215740071-215740121	T-47D	breast:	n/a
35	chr1:215740071-215740121	BE2_C	brain:	n/a
36	chr1:215740071-215740121	ovcar-3	ovarian:	n/a
37	chr1:215740071-215740121	IMR90	lung:	fetal
38	chr1:215740071-215740121	HepG2	liver:	n/a
39	chr1:215740071-215740121	HL-60	blood:	n/a
40	chr1:215740071-215740121	HNPCEpiC	eye:	n/a
41	chr1:215740071-215740121	SKMC	muscle:	n/a
42	chr1:215740071-215740121	Jurkat	blood:	n/a
43	chr1:215740071-215740121	NT2-D1	testis:	n/a
44	chr1:215740071-215740121	CMK	blood:	n/a
45	chr1:215740071-215740121	HAEpiC	amniotic membrane:	n/a
46	chr1:215740071-215740121	GM19239	blood:	n/a
47	chr1:215740071-215740121	HEEpiC	esophagus:	n/a
48	chr1:215740071-215740121	Hela-S3	cervix:	n/a
49	chr1:215740071-215740121	NB4	blood:	n/a
50	chr1:215740071-215740121	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215727802..215730014-chr1:215737556..215740283,2	K562	blood:
2	chr1:215739388..215743068-chr1:215745972..215749293,5	MCF-7	breast:

Variant related genes	Relation type
KCTD3	TF binding region
KCTD3	CpG island
ENSG00000136636	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3411228	chr1:215704606-215742745	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3334079	chr1:215717606-215745691	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3362620	chr1:215739954-215742502	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:215730800-215740200	Weak transcription	Pancreas	Pancrea
2	chr1:215732000-215740200	Weak transcription	Stomach Mucosa	stomach
3	chr1:215739400-215742200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:215739600-215740200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:215739600-215742000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:215739800-215740200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:215739800-215740200	Active TSS	K562	blood
8	chr1:215739800-215740400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:215739800-215740400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:215739800-215740400	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr1:215739800-215740400	Flanking Active TSS	HUVEC	blood vessel
12	chr1:215739800-215740600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:215739800-215742000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:215739800-215742200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:215739800-215742200	Active TSS	Osteobl	bone
16	chr1:215739800-215742400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr1:215739800-215742400	Active TSS	Brain Anterior Caudate	brain
18	chr1:215739800-215742600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:215739800-215742800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:215739800-215743200	Active TSS	A549	lung
21	chr1:215739800-215743200	Active TSS	NHDF-Ad	bronchial
22	chr1:215739800-215743400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr1:215739800-215743400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:215739800-215743600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:215739800-215744400	Active TSS	NHLF	lung
26	chr1:215740000-215740200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:215740000-215740200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr1:215740000-215740200	Flanking Active TSS	Fetal Lung	lung
29	chr1:215740000-215740200	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr1:215740000-215740200	Flanking Active TSS	Hela-S3	cervix
31	chr1:215740000-215740200	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr1:215740000-215740400	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr1:215740000-215740400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr1:215740000-215740400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr1:215740000-215740400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr1:215740000-215740400	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr1:215740000-215740400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr1:215740000-215740400	Flanking Active TSS	Dnd41	blood
39	chr1:215740000-215740400	Active TSS	HepG2	liver
40	chr1:215740000-215740400	Flanking Active TSS	NH-A	brain
41	chr1:215740000-215740600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr1:215740000-215740600	Active TSS	Right Atrium	heart
43	chr1:215740000-215741000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:215740000-215741000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:215740000-215741000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:215740000-215741200	Active TSS	Adipose Nuclei	Adipose
47	chr1:215740000-215741800	Active TSS	Placenta	Placenta
48	chr1:215740000-215742000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:215740000-215742000	Active TSS	Liver	Liver
50	chr1:215740000-215742000	Active TSS	Brain Germinal Matrix	brain

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