Variant report

Variant	rs552484284
Chromosome Location	chr1:85929849-85929850
allele	C/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	POLR2A	chr1:85929292-85931998	SK-N-SH	brain:	n/a	n/a
2	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
3	CTCF	chr1:85929740-85929890	SAEC	small airway:	n/a	n/a
4	POLR2A	chr1:85929452-85931526	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:85928502-85932579	HUVEC	blood vessel:	n/a	n/a
6	REST	chr1:85929836-85931459	H1-neurons	neurons:	n/a	chr1:85930831-85930851 chr1:85931109-85931127
7	MAX	chr1:85929839-85931241	H1-hESC	embryonic stem cell:	n/a	chr1:85930164-85930174
8	POLR2A	chr1:85929743-85931197	HUVEC	blood vessel:	n/a	n/a
9	TCF7L2	chr1:85928716-85930001	PANC-1	pancreas:	n/a	chr1:85929197-85929211 chr1:85929199-85929208 chr1:85929196-85929212 chr1:85929200-85929209 chr1:85929198-85929208 chr1:85929196-85929212
10	SIN3AK20	chr1:85929733-85931353	PANC-1	pancreas:	n/a	n/a
11	RAD21	chr1:85929724-85930152	SK-N-SH_RA	brain:	n/a	chr1:85930020-85930030 chr1:85930019-85930032 chr1:85930016-85930035 chr1:85930018-85930030
12	ZEB1	chr1:85929735-85931446	HepG2	liver:	n/a	chr1:85931200-85931212
13	MAX	chr1:85929823-85931420	A549	lung:	n/a	chr1:85930164-85930174
14	CTCF	chr1:85929820-85929970	NHDF-neo	bronchial:	n/a	n/a
15	E2F6	chr1:85929704-85931365	H1-hESC	embryonic stem cell:	n/a	chr1:85931054-85931063
16	ZBTB7A	chr1:85929804-85930679	ECC-1	luminal epithelium:	n/a	n/a
17	HA-E2F1	chr1:85929803-85931380	MCF-7	breast:	n/a	chr1:85931054-85931063 chr1:85930955-85930966
18	MAX	chr1:85929839-85931229	H1-hESC	embryonic stem cell:	n/a	chr1:85930164-85930174
19	POLR2A	chr1:85929752-85931279	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr1:85929750-85931907	ProgFib	skin:	n/a	n/a
21	TCF12	chr1:85929726-85931276	ECC-1	luminal epithelium:	n/a	chr1:85931177-85931187
22	POLR2A	chr1:85928236-85932598	HUVEC	blood vessel:	n/a	n/a
23	MAX	chr1:85929802-85931430	HCT-116	colon:	n/a	chr1:85930164-85930174
24	POLR2A	chr1:85928257-85932490	HUVEC	blood vessel:	n/a	n/a
25	MAX	chr1:85929823-85931208	SK-N-SH	brain:	n/a	chr1:85930164-85930174
26	TFAP2C	chr1:85929806-85931203	Hela-S3	cervix:	n/a	chr1:85930321-85930336
27	POLR2A	chr1:85928095-85932547	HUVEC	blood vessel:	n/a	n/a
28	SIN3AK20	chr1:85929684-85930735	PANC-1	pancreas:	n/a	n/a
29	MAX	chr1:85929846-85931302	HepG2	liver:	n/a	chr1:85930164-85930174
30	POLR2A	chr1:85928913-85932472	HUVEC	blood vessel:	n/a	n/a
31	SIN3AK20	chr1:85929682-85931165	SK-N-SH	brain:	n/a	n/a
32	ZBTB7A	chr1:85929804-85930646	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr1:85929625-85931965	IMR90	lung:	n/a	n/a
34	MAZ	chr1:85929309-85931822	IMR90	lung:	n/a	chr1:85930164-85930174
35	POLR2A	chr1:85929268-85932094	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr1:85928110-85932105	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr1:85929683-85930333	SK-N-SH	brain:	n/a	n/a
38	RAD21	chr1:85929644-85929997	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:85920031..85922123-chr1:85928283..85929923,2	K562	blood:
2	chr1:85929364..85932220-chr1:86042357..86044099,2	MCF-7	breast:
3	chr1:85927983..85931587-chr1:86046693..86050651,4	MCF-7	breast:
4	chr1:85929622..85931400-chr1:86044914..86046491,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273264	TF binding region
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: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	chr1:85929200-85930000	Bivalent/Poised TSS	HepG2	liver
12	chr1:85929200-85931000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:85929200-85931000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:85929200-85931000	Active TSS	NH-A	brain
15	chr1:85929200-85931200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:85929200-85931200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:85929200-85931200	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr1:85929200-85931400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:85929200-85931400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:85929200-85931400	Active TSS	NHDF-Ad	bronchial
21	chr1:85929200-85931600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr1:85929200-85931600	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr1:85929200-85931800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:85929200-85931800	Active TSS	Brain Angular Gyrus	brain
25	chr1:85929400-85930000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:85929400-85930000	Flanking Active TSS	NHEK	skin
27	chr1:85929400-85930400	Flanking Active TSS	HMEC	breast
28	chr1:85929400-85931000	Active TSS	Muscle Satellite Cultured Cells	--
29	chr1:85929400-85931000	Active TSS	Ovary	ovary
30	chr1:85929400-85931000	Active TSS	Pancreas	Pancrea
31	chr1:85929400-85931200	Active TSS	Aorta	Aorta
32	chr1:85929400-85931200	Active TSS	Fetal Intestine Small	intestine
33	chr1:85929400-85931200	Active TSS	Gastric	stomach
34	chr1:85929400-85931200	Active TSS	Hela-S3	cervix
35	chr1:85929400-85931200	Active TSS	HUVEC	blood vessel
36	chr1:85929400-85931400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:85929600-85930000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
38	chr1:85929600-85930000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:85929600-85930000	Flanking Active TSS	Right Ventricle	heart
40	chr1:85929600-85930200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:85929600-85930200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:85929600-85930200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr1:85929600-85930200	Flanking Active TSS	Fetal Brain Male	brain
44	chr1:85929600-85930400	Active TSS	Right Atrium	heart
45	chr1:85929600-85931000	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr1:85929600-85931200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:85929600-85931200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:85929600-85931200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr1:85929600-85931200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:85929600-85931200	Active TSS	Psoas Muscle	Psoas

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