Variant report

Variant	rs186942293
Chromosome Location	chr1:85930923-85930924
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	ZBTB33	chr1:85930828-85931048	HepG2	liver:	n/a	chr1:85930954-85930969 chr1:85930954-85930964
2	POLR2A	chr1:85930181-85931154	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:85930237-85931104	A549	lung:	n/a	n/a
4	POLR2A	chr1:85929292-85931998	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr1:85929920-85931350	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr1:85929796-85931302	IMR90	lung:	n/a	chr1:85930020-85930030 chr1:85930019-85930032 chr1:85930016-85930035 chr1:85930777-85930790 chr1:85930018-85930030 chr1:85930214-85930227
7	POLR2A	chr1:85930681-85931120	HepG2	liver:	n/a	n/a
8	E2F6	chr1:85929976-85931339	H1-hESC	embryonic stem cell:	n/a	chr1:85931054-85931063
9	ZBTB33	chr1:85930834-85931072	HepG2	liver:	n/a	chr1:85930954-85930969 chr1:85930954-85930964
10	TAF1	chr1:85930714-85931043	H1-neurons	neurons:	n/a	n/a
11	MXI1	chr1:85929885-85931223	HepG2	liver:	n/a	chr1:85930175-85930184
12	POLR2A	chr1:85929452-85931526	HepG2	liver:	n/a	n/a
13	HEY1	chr1:85930033-85931353	HepG2	liver:	n/a	chr1:85930864-85930879 chr1:85930984-85930999
14	POLR2A	chr1:85928502-85932579	HUVEC	blood vessel:	n/a	n/a
15	NFIC	chr1:85930154-85931269	ECC-1	luminal epithelium:	n/a	n/a
16	YY1	chr1:85930148-85931066	ECC-1	luminal epithelium:	n/a	chr1:85930903-85930917
17	RCOR1	chr1:85930356-85931122	HepG2	liver:	n/a	n/a
18	TAF1	chr1:85930580-85931124	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr1:85929889-85931334	HepG2	liver:	n/a	chr1:85930164-85930174
20	POLR2A	chr1:85930164-85931333	ECC-1	luminal epithelium:	n/a	n/a
21	EP300	chr1:85930758-85931026	HepG2	liver:	n/a	chr1:85930776-85930792
22	RAD21	chr1:85930685-85931301	H1-hESC	embryonic stem cell:	n/a	chr1:85930777-85930790
23	TAF1	chr1:85930239-85931346	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr1:85929869-85931318	MCF-7	breast:	n/a	n/a
25	MYBL2	chr1:85930748-85931447	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:85930251-85931170	A549	lung:	n/a	n/a
27	ZNF263	chr1:85930221-85931000	HEK293-T-REx	kidney:	n/a	n/a
28	REST	chr1:85929836-85931459	H1-neurons	neurons:	n/a	chr1:85930831-85930851 chr1:85931109-85931127
29	POLR2A	chr1:85930412-85931150	MCF10A-Er-Src	breast:	n/a	n/a
30	MAX	chr1:85929839-85931241	H1-hESC	embryonic stem cell:	n/a	chr1:85930164-85930174
31	EGR1	chr1:85930329-85931237	H1-hESC	embryonic stem cell:	n/a	chr1:85931051-85931061 chr1:85931049-85931062 chr1:85931045-85931067 chr1:85931049-85931062 chr1:85931054-85931064 chr1:85931049-85931063 chr1:85931050-85931061 chr1:85931049-85931062 chr1:85931019-85931029
32	ZBTB33	chr1:85930832-85931022	HepG2	liver:	n/a	chr1:85930954-85930969 chr1:85930954-85930964
33	POLR2A	chr1:85930302-85931257	MCF-7	breast:	n/a	n/a
34	TCF7L2	chr1:85930258-85931292	PANC-1	pancreas:	n/a	n/a
35	BACH1	chr1:85930320-85931030	H1-hESC	embryonic stem cell:	n/a	n/a
36	TCF12	chr1:85930895-85931186	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF7L2	chr1:85930870-85931286	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:85929743-85931197	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr1:85930143-85931239	HepG2	liver:	n/a	n/a
40	EGR1	chr1:85930111-85930929	HCT-116	colon:	n/a	chr1:85930166-85930179 chr1:85930165-85930179 chr1:85930165-85930180 chr1:85930165-85930175 chr1:85930166-85930179
41	YY1	chr1:85930064-85931221	HepG2	liver:	n/a	chr1:85930903-85930917
42	RFX5	chr1:85930328-85931087	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:85930107-85931096	Gliobla	brain:	n/a	n/a
44	CEBPD	chr1:85930608-85931087	HepG2	liver:	n/a	n/a
45	TBP	chr1:85930237-85931233	HepG2	liver:	n/a	n/a
46	TBP	chr1:85930292-85931168	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:85930200-85931209	H1-hESC	embryonic stem cell:	n/a	n/a
48	SIN3AK20	chr1:85929733-85931353	PANC-1	pancreas:	n/a	n/a
49	ARID3A	chr1:85930915-85931330	HepG2	liver:	n/a	n/a
50	NRF1	chr1:85930077-85931339	SK-N-SH	brain:	n/a	chr1:85930889-85930903 chr1:85930165-85930174 chr1:85930874-85930883

No.	Distal block	Cell Line	Cell type
1	chr1:85929364..85932220-chr1:86042357..86044099,2	MCF-7	breast:
2	chr1:85927983..85931587-chr1:86046693..86050651,4	MCF-7	breast:
3	chr1:85930091..85932037-chr1:86045511..86048058,4	MCF-7	breast:
4	chr1:85929622..85931400-chr1:86044914..86046491,2	MCF-7	breast:

Variant related genes	Relation type
DDAH1	TF binding region
ENSG00000273264	TF binding region
ENSG00000153904	Chromatin interaction
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3437564	chr1:85929789-85932337	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85928200-85931000	Active TSS	NHLF	lung
2	chr1:85928400-85931400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:85928400-85931600	Active TSS	Brain Anterior Caudate	brain
4	chr1:85928600-85931600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:85928800-85931200	Active TSS	Liver	Liver
6	chr1:85928800-85931400	Active TSS	Duodenum Mucosa	Duodenum
7	chr1:85929000-85931200	Active TSS	Fetal Intestine Large	intestine
8	chr1:85929000-85931600	Active TSS	Brain Cingulate Gyrus	brain
9	chr1:85929000-85931600	Active TSS	HSMM	muscle
10	chr1:85929000-85931600	Active TSS	HSMMtube	muscle
11	chr1:85929200-85931000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:85929200-85931000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:85929200-85931000	Active TSS	NH-A	brain
14	chr1:85929200-85931200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:85929200-85931200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:85929200-85931200	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr1:85929200-85931400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:85929200-85931400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:85929200-85931400	Active TSS	NHDF-Ad	bronchial
20	chr1:85929200-85931600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr1:85929200-85931600	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr1:85929200-85931800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:85929200-85931800	Active TSS	Brain Angular Gyrus	brain
24	chr1:85929400-85931000	Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:85929400-85931000	Active TSS	Ovary	ovary
26	chr1:85929400-85931000	Active TSS	Pancreas	Pancrea
27	chr1:85929400-85931200	Active TSS	Aorta	Aorta
28	chr1:85929400-85931200	Active TSS	Fetal Intestine Small	intestine
29	chr1:85929400-85931200	Active TSS	Gastric	stomach
30	chr1:85929400-85931200	Active TSS	Hela-S3	cervix
31	chr1:85929400-85931200	Active TSS	HUVEC	blood vessel
32	chr1:85929400-85931400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:85929600-85931000	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr1:85929600-85931200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr1:85929600-85931200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:85929600-85931200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr1:85929600-85931200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr1:85929600-85931200	Active TSS	Psoas Muscle	Psoas
39	chr1:85929600-85931200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr1:85929600-85931400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr1:85929600-85931400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:85929600-85931400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:85929600-85931400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:85929600-85931400	Active TSS	Brain Substantia Nigra	brain
45	chr1:85929600-85931600	Active TSS	A549	lung
46	chr1:85929800-85931000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:85929800-85931000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:85929800-85931000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:85929800-85931000	Active TSS	Fetal Lung	lung
50	chr1:85929800-85931000	Active TSS	Left Ventricle	heart

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