Variant report

Variant	rs556065977
Chromosome Location	chr1:85930185-85930186
allele	A/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	POLR2A	chr1:85930181-85931154	Hela-S3	cervix:	n/a	n/a
2	REST	chr1:85930149-85930581	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr1:85929292-85931998	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr1:85929920-85931350	H1-hESC	embryonic stem cell:	n/a	n/a
5	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
6	E2F6	chr1:85929976-85931339	H1-hESC	embryonic stem cell:	n/a	chr1:85931054-85931063
7	MXI1	chr1:85929885-85931223	HepG2	liver:	n/a	chr1:85930175-85930184
8	POLR2A	chr1:85929452-85931526	HepG2	liver:	n/a	n/a
9	HEY1	chr1:85930033-85931353	HepG2	liver:	n/a	chr1:85930864-85930879 chr1:85930984-85930999
10	POLR2A	chr1:85928502-85932579	HUVEC	blood vessel:	n/a	n/a
11	NFIC	chr1:85930154-85931269	ECC-1	luminal epithelium:	n/a	n/a
12	YY1	chr1:85930148-85931066	ECC-1	luminal epithelium:	n/a	chr1:85930903-85930917
13	MAX	chr1:85929889-85931334	HepG2	liver:	n/a	chr1:85930164-85930174
14	POLR2A	chr1:85930164-85931333	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr1:85929869-85931318	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:85930126-85930553	HepG2	liver:	n/a	n/a
17	REST	chr1:85929836-85931459	H1-neurons	neurons:	n/a	chr1:85930831-85930851 chr1:85931109-85931127
18	HEY1	chr1:85930119-85930616	HepG2	liver:	n/a	n/a
19	MAX	chr1:85929839-85931241	H1-hESC	embryonic stem cell:	n/a	chr1:85930164-85930174
20	POLR2A	chr1:85929743-85931197	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr1:85930143-85931239	HepG2	liver:	n/a	n/a
22	RAD21	chr1:85930172-85930489	SK-N-SH_RA	brain:	n/a	chr1:85930214-85930227
23	EGR1	chr1:85930111-85930929	HCT-116	colon:	n/a	chr1:85930166-85930179 chr1:85930165-85930179 chr1:85930165-85930180 chr1:85930165-85930175 chr1:85930166-85930179
24	CTCF	chr1:85930160-85930310	GM06990	blood:	n/a	n/a
25	YY1	chr1:85930064-85931221	HepG2	liver:	n/a	chr1:85930903-85930917
26	POLR2A	chr1:85930107-85931096	Gliobla	brain:	n/a	n/a
27	SIN3AK20	chr1:85929733-85931353	PANC-1	pancreas:	n/a	n/a
28	NRF1	chr1:85930077-85931339	SK-N-SH	brain:	n/a	chr1:85930889-85930903 chr1:85930165-85930174 chr1:85930874-85930883
29	MAX	chr1:85930176-85931076	A549	lung:	n/a	n/a
30	MAX	chr1:85930049-85931194	Hela-S3	cervix:	n/a	chr1:85930164-85930174
31	POLR2A	chr1:85930135-85931242	HEK293	kidney:	n/a	n/a
32	ZEB1	chr1:85929735-85931446	HepG2	liver:	n/a	chr1:85931200-85931212
33	MAX	chr1:85929823-85931420	A549	lung:	n/a	chr1:85930164-85930174
34	E2F6	chr1:85929704-85931365	H1-hESC	embryonic stem cell:	n/a	chr1:85931054-85931063
35	POLR2A	chr1:85930166-85930649	HepG2	liver:	n/a	n/a
36	HDAC2	chr1:85930166-85930699	HepG2	liver:	n/a	n/a
37	TAF1	chr1:85929949-85931142	SK-N-SH	brain:	n/a	n/a
38	TAF1	chr1:85930131-85931230	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr1:85930177-85931209	HepG2	liver:	n/a	n/a
40	MYC	chr1:85930158-85930371	H1-hESC	embryonic stem cell:	n/a	chr1:85930164-85930174
41	ZBTB7A	chr1:85929804-85930679	ECC-1	luminal epithelium:	n/a	n/a
42	SIN3AK20	chr1:85929956-85931215	MCF-7	breast:	n/a	n/a
43	TFAP2A	chr1:85929872-85930737	Hela-S3	cervix:	n/a	chr1:85930296-85930307 chr1:85930321-85930336 chr1:85930326-85930334
44	HA-E2F1	chr1:85929803-85931380	MCF-7	breast:	n/a	chr1:85931054-85931063 chr1:85930955-85930966
45	CHD2	chr1:85930121-85930322	HepG2	liver:	n/a	n/a
46	MAX	chr1:85930042-85931105	HepG2	liver:	n/a	chr1:85930164-85930174
47	MAX	chr1:85929839-85931229	H1-hESC	embryonic stem cell:	n/a	chr1:85930164-85930174
48	POLR2A	chr1:85929752-85931279	H1-neurons	neurons:	n/a	n/a
49	RAD21	chr1:85930009-85931117	SK-N-SH_RA	brain:	n/a	chr1:85930020-85930030 chr1:85930019-85930032 chr1:85930016-85930035 chr1:85930777-85930790 chr1:85930018-85930030 chr1:85930214-85930227
50	POLR2A	chr1:85929750-85931907	ProgFib	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:85930151-85930201	GM12892	blood:	n/a
2	chr1:85930151-85930201	HCM	heart:	n/a
3	chr1:85930151-85930201	HRCEpiC	kidney:	n/a
4	chr1:85930151-85930201	NH-A	brain:	n/a
5	chr1:85930151-85930201	U87	brain:	n/a
6	chr1:85930151-85930201	HEK293	kidney:	embryo
7	chr1:85930151-85930201	GM12891	blood:	n/a
8	chr1:85930151-85930201	K562	blood:	n/a
9	chr1:85930151-85930201	HCF	heart:	n/a
10	chr1:85930151-85930201	PFSK-1	brain:	n/a
11	chr1:85930151-85930201	SK-N-SH_RA	brain:	n/a
12	chr1:85930151-85930201	HCPEpiC	choroid plexus:	n/a
13	chr1:85930151-85930201	MCF10A-Er-Src	breast:	n/a
14	chr1:85930151-85930201	HL-60	blood:	n/a
15	chr1:85930151-85930201	HMEC	breast:	n/a
16	chr1:85930151-85930201	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:85930151-85930201	SK-N-SH	brain:	n/a
18	chr1:85930151-85930201	PANC-1	pancreas:	n/a
19	chr1:85930151-85930201	Caco-2	colon:	n/a
20	chr1:85930151-85930201	Hela-S3	cervix:	n/a
21	chr1:85930151-85930201	HIPEpiC	eye:	n/a
22	chr1:85930151-85930201	T-47D	breast:	n/a
23	chr1:85930151-85930201	Jurkat	blood:	n/a
24	chr1:85930151-85930201	HEEpiC	esophagus:	n/a
25	chr1:85930151-85930201	AG09309	skin:	n/a
26	chr1:85930151-85930201	AG10803	skin:	n/a
27	chr1:85930151-85930201	HepG2	liver:	n/a
28	chr1:85930151-85930201	AG04450	lung:	fetal
29	chr1:85930151-85930201	GM06990	blood:	n/a
30	chr1:85930151-85930201	A549	lung:	n/a
31	chr1:85930151-85930201	ovcar-3	ovarian:	n/a
32	chr1:85930151-85930201	MCF-7	breast:	n/a
33	chr1:85930151-85930201	HAEpiC	amniotic membrane:	n/a
34	chr1:85930151-85930201	SKMC	muscle:	n/a
35	chr1:85930151-85930201	ProgFib	skin:	n/a
36	chr1:85930151-85930201	AG04449	skin:	fetal
37	chr1:85930151-85930201	HRPEpiC	eye:	n/a
38	chr1:85930151-85930201	NT2-D1	testis:	n/a
39	chr1:85930151-85930201	GM12878	blood:	n/a
40	chr1:85930151-85930201	LNCaP	prostate:	n/a
41	chr1:85930151-85930201	PrEC	prostate:	n/a
42	chr1:85930151-85930201	RPTEC	kidney:	n/a
43	chr1:85930151-85930201	NHBE	bronchial:	n/a
44	chr1:85930151-85930201	ECC-1	luminal epithelium:	n/a
45	chr1:85930151-85930201	HRE	kidney:	n/a
46	chr1:85930151-85930201	GM19239	blood:	n/a
47	chr1:85930151-85930201	HUVEC	blood vessel:	n/a
48	chr1:85930151-85930201	IMR90	lung:	fetal
49	chr1:85930151-85930201	BE2_C	brain:	n/a
50	chr1:85930151-85930201	HCT-116	colon:	n/a

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
ENSG00000273264	TF binding region
ENSG00000273264	CpG island
ENSG00000142871	Chromatin interaction
ENSG00000153904	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:118 , 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	chr1:85929400-85930400	Flanking Active TSS	HMEC	breast
25	chr1:85929400-85931000	Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:85929400-85931000	Active TSS	Ovary	ovary
27	chr1:85929400-85931000	Active TSS	Pancreas	Pancrea
28	chr1:85929400-85931200	Active TSS	Aorta	Aorta
29	chr1:85929400-85931200	Active TSS	Fetal Intestine Small	intestine
30	chr1:85929400-85931200	Active TSS	Gastric	stomach
31	chr1:85929400-85931200	Active TSS	Hela-S3	cervix
32	chr1:85929400-85931200	Active TSS	HUVEC	blood vessel
33	chr1:85929400-85931400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:85929600-85930200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:85929600-85930200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:85929600-85930200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr1:85929600-85930200	Flanking Active TSS	Fetal Brain Male	brain
38	chr1:85929600-85930400	Active TSS	Right Atrium	heart
39	chr1:85929600-85931000	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr1:85929600-85931200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr1:85929600-85931200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:85929600-85931200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:85929600-85931200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr1:85929600-85931200	Active TSS	Psoas Muscle	Psoas
45	chr1:85929600-85931200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr1:85929600-85931400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr1:85929600-85931400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:85929600-85931400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:85929600-85931400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:85929600-85931400	Active TSS	Brain Substantia Nigra	brain

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