Variant report

Variant	rs570572102
Chromosome Location	chr1:95582474-95582475
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	MAX	chr1:95582244-95583623	K562	blood:	n/a	chr1:95582839-95582849
2	MAZ	chr1:95582229-95583886	K562	blood:	n/a	chr1:95582839-95582849 chr1:95583662-95583672
3	RAD21	chr1:95582166-95582636	SK-N-SH_RA	brain:	n/a	n/a
4	REST	chr1:95581938-95583315	H1-neurons	neurons:	n/a	chr1:95583217-95583230 chr1:95582375-95582395 chr1:95583161-95583174 chr1:95582615-95582635 chr1:95582615-95582635
5	CTCF	chr1:95582288-95582575	Spleen_OC	spleen:	n/a	n/a
6	RFX5	chr1:95582182-95583171	Hela-S3	cervix:	n/a	n/a
7	JUND	chr1:95582239-95582810	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF384	chr1:95582307-95583254	K562	blood:	n/a	chr1:95582602-95582610
9	POLR2A	chr1:95582265-95582615	K562	blood:	n/a	n/a
10	CTCF	chr1:95582380-95582530	GM12865	blood:	n/a	n/a
11	EP300	chr1:95582217-95582946	K562	blood:	n/a	chr1:95582867-95582883 chr1:95582863-95582879 chr1:95582828-95582844
12	CTCF	chr1:95582340-95582490	AG04449	skin:	n/a	n/a
13	CTCF	chr1:95582105-95583015	HCT-116	colon:	n/a	n/a
14	CTCF	chr1:95582320-95582590	WI-38	lung:	n/a	n/a
15	CTCF	chr1:95582340-95582490	Hela-S3	cervix:	n/a	n/a
16	MXI1	chr1:95582035-95584169	SK-N-SH	brain:	n/a	n/a
17	RCOR1	chr1:95582229-95583998	K562	blood:	n/a	n/a
18	TAF1	chr1:95582160-95583351	ECC-1	luminal epithelium:	n/a	n/a
19	MYC	chr1:95582333-95582503	K562	blood:	n/a	n/a
20	MYC	chr1:95582180-95583565	K562	blood:	n/a	chr1:95582839-95582849
21	TEAD4	chr1:95582150-95582885	K562	blood:	n/a	n/a
22	HEY1	chr1:95582312-95583218	HepG2	liver:	n/a	chr1:95583135-95583150
23	GATA3	chr1:95582243-95582540	T-47D	breast:	n/a	n/a
24	CTCF	chr1:95582313-95582531	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr1:95582400-95582550	A549	lung:	n/a	n/a
26	CTCF	chr1:95582229-95582602	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr1:95582360-95582510	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr1:95582340-95582490	GM12869	blood:	n/a	n/a
29	MAX	chr1:95582179-95583242	Hela-S3	cervix:	n/a	chr1:95582839-95582849
30	CTCF	chr1:95582340-95582490	GM12872	blood:	n/a	n/a
31	USF2	chr1:95582194-95582754	Hela-S3	cervix:	n/a	chr1:95582635-95582651
32	CTCF	chr1:95582340-95582490	GM12878	blood:	n/a	n/a
33	CTCF	chr1:95582340-95582490	GM12866	blood:	n/a	n/a
34	MYBL2	chr1:95582154-95582862	HepG2	liver:	n/a	n/a
35	CTCF	chr1:95582196-95582623	HepG2	liver:	n/a	n/a
36	HEY1	chr1:95582351-95582576	K562	blood:	n/a	n/a
37	CTCF	chr1:95582340-95582490	HMF	breast:	n/a	n/a
38	REST	chr1:95582359-95582576	A549	lung:	n/a	chr1:95582375-95582395
39	BRCA1	chr1:95582222-95582906	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr1:95582298-95582557	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr1:95582311-95582550	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:95582255-95582665	K562	blood:	n/a	n/a
43	TBL1XR1	chr1:95582195-95583199	K562	blood:	n/a	n/a
44	RAD21	chr1:95582312-95583009	IMR90	lung:	n/a	n/a
45	RAD21	chr1:95582156-95583515	H1-hESC	embryonic stem cell:	n/a	chr1:95583050-95583063 chr1:95583109-95583121 chr1:95583107-95583126
46	RCOR1	chr1:95582190-95583315	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr1:95582151-95582693	A549	lung:	n/a	n/a
48	MAX	chr1:95582105-95583117	ECC-1	luminal epithelium:	n/a	chr1:95582839-95582849
49	MAX	chr1:95582194-95582712	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr1:95582162-95582636	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:95581571..95584597-chr1:95698513..95700535,3	MCF-7	breast:
2	chr1:94946963..94948709-chr1:95581027..95583387,2	K562	blood:
3	chr1:95537109..95538703-chr1:95581704..95583330,2	MCF-7	breast:
4	chr1:95581745..95584156-chr1:95699309..95702187,2	MCF-7	breast:
5	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:
6	chr1:95579611..95582560-chr1:95641374..95643709,2	K562	blood:
7	chr1:95537896..95540428-chr1:95580653..95582591,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231992	TF binding region
TMEM56-RWDD3	TF binding region
TMEM56	TF binding region
ENSG00000117528	Chromatin interaction
ENSG00000206679	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000172339	Chromatin interaction
ENSG00000122481	Chromatin interaction

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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3354291	chr1:95580964-95585362	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
3	esv3407777	chr1:95581989-95584537	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
4	esv3326839	chr1:95582464-95584412	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95581600-95582800	Flanking Active TSS	Liver	Liver
2	chr1:95582000-95583400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:95582000-95583600	Active TSS	Stomach Smooth Muscle	stomach
4	chr1:95582000-95584200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:95582000-95584800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:95582200-95582600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:95582200-95582600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:95582200-95582600	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr1:95582200-95582800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:95582200-95582800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:95582200-95582800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:95582200-95582800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:95582200-95582800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr1:95582200-95582800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr1:95582200-95582800	Flanking Bivalent TSS/Enh	Osteobl	bone
16	chr1:95582200-95583200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:95582200-95583200	Active TSS	Colonic Mucosa	Colon
18	chr1:95582200-95583400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:95582200-95583400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:95582200-95583400	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr1:95582200-95583400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:95582200-95583400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:95582200-95583400	Active TSS	Psoas Muscle	Psoas
24	chr1:95582200-95583400	Active TSS	NHLF	lung
25	chr1:95582200-95583600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:95582200-95583600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:95582200-95583600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:95582200-95583600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
29	chr1:95582200-95583600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:95582200-95583600	Active TSS	Duodenum Mucosa	Duodenum
31	chr1:95582200-95583600	Active TSS	Fetal Brain Female	brain
32	chr1:95582200-95583600	Active TSS	Fetal Kidney	kidney
33	chr1:95582200-95583800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:95582200-95583800	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr1:95582200-95583800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:95582200-95583800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:95582200-95583800	Bivalent/Poised TSS	NHDF-Ad	bronchial
38	chr1:95582200-95584000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr1:95582200-95584000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:95582200-95584000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:95582200-95584000	Active TSS	Aorta	Aorta
42	chr1:95582200-95584000	Active TSS	Brain Angular Gyrus	brain
43	chr1:95582200-95584000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:95582200-95584000	Active TSS	Colon Smooth Muscle	Colon
45	chr1:95582200-95584000	Active TSS	Left Ventricle	heart
46	chr1:95582200-95584200	Active TSS	A549	lung
47	chr1:95582200-95584400	Active TSS	Brain Cingulate Gyrus	brain
48	chr1:95582200-95584400	Active TSS	Rectal Smooth Muscle	rectum
49	chr1:95582200-95584600	Active TSS	Right Atrium	heart
50	chr1:95582200-95584600	Active TSS	Right Ventricle	heart

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