Variant report

Variant	rs535795748
Chromosome Location	chr1:95583396-95583397
allele	G/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	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	MXI1	chr1:95582035-95584169	SK-N-SH	brain:	n/a	n/a
4	RCOR1	chr1:95582229-95583998	K562	blood:	n/a	n/a
5	MYC	chr1:95582180-95583565	K562	blood:	n/a	chr1:95582839-95582849
6	POLR2A	chr1:95582489-95583402	HepG2	liver:	n/a	n/a
7	CTCF	chr1:95583306-95583554	K562	blood:	n/a	n/a
8	YY1	chr1:95583207-95583580	K562	blood:	n/a	chr1:95583236-95583247 chr1:95583525-95583539 chr1:95583233-95583247
9	E2F6	chr1:95583113-95583570	K562	blood:	n/a	chr1:95583278-95583290 chr1:95583131-95583141
10	POLR2A	chr1:95583385-95583586	Gliobla	brain:	n/a	n/a
11	CTCF	chr1:95582896-95583589	K562	blood:	n/a	chr1:95583111-95583124 chr1:95583109-95583127
12	CTCF	chr1:95583300-95583450	GM12869	blood:	n/a	n/a
13	RAD21	chr1:95582156-95583515	H1-hESC	embryonic stem cell:	n/a	chr1:95583050-95583063 chr1:95583109-95583121 chr1:95583107-95583126
14	SMARCB1	chr1:95582265-95583701	Hela-S3	cervix:	n/a	n/a
15	ZBTB7A	chr1:95582725-95583569	K562	blood:	n/a	n/a
16	CHD1	chr1:95583386-95583581	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZNF263	chr1:95582209-95583813	HEK293-T-REx	kidney:	n/a	chr1:95583198-95583207
18	EP300	chr1:95583381-95583577	HepG2	liver:	n/a	n/a
19	CTCF	chr1:95583380-95583530	GM12873	blood:	n/a	n/a
20	CTCF	chr1:95583358-95583485	GM19240	blood:	n/a	n/a
21	CTCF	chr1:95583340-95583490	GM12868	blood:	n/a	n/a
22	POLR2A	chr1:95582730-95583461	A549	lung:	n/a	n/a
23	BACH1	chr1:95583325-95583787	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr1:95583360-95583510	WERI-Rb-1	eye:	n/a	n/a
25	RAD21	chr1:95582036-95584093	SK-N-SH	brain:	n/a	chr1:95583750-95583757 chr1:95583050-95583063 chr1:95583664-95583676 chr1:95583662-95583681 chr1:95583109-95583121 chr1:95583107-95583126
26	CTCF	chr1:95583340-95583490	GM12871	blood:	n/a	n/a
27	POLR2A	chr1:95582211-95583676	Hela-S3	cervix:	n/a	n/a
28	SMC3	chr1:95582167-95583754	SK-N-SH	brain:	n/a	n/a
29	CTCF	chr1:95582103-95583749	SK-N-SH	brain:	n/a	chr1:95583111-95583124 chr1:95583109-95583127
30	CTBP2	chr1:95582265-95583734	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr1:95582132-95583522	ECC-1	luminal epithelium:	n/a	chr1:95582839-95582849
32	NANOG	chr1:95583332-95583601	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr1:95583396-95583534	K562	blood:	n/a	n/a
34	HA-E2F1	chr1:95582613-95583641	Hela-S3	cervix:	n/a	chr1:95583278-95583289 chr1:95583278-95583290 chr1:95582642-95582651 chr1:95583131-95583141
35	CTCF	chr1:95583340-95583490	GM12873	blood:	n/a	n/a
36	HDAC2	chr1:95582620-95583589	HepG2	liver:	n/a	chr1:95583139-95583148
37	TCF12	chr1:95582142-95583485	ECC-1	luminal epithelium:	n/a	chr1:95582442-95582452
38	POLR2A	chr1:95582802-95583414	HCT-116	colon:	n/a	n/a
39	CTCF	chr1:95583340-95583490	SK-N-SH_RA	brain:	n/a	n/a
40	HMGN3	chr1:95582653-95583644	K562	blood:	n/a	n/a
41	UBTF	chr1:95582060-95583903	K562	blood:	n/a	n/a
42	E2F1	chr1:95582781-95583513	Hela-S3	cervix:	n/a	chr1:95583278-95583289 chr1:95583278-95583290 chr1:95583131-95583141
43	TAF1	chr1:95583262-95583468	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr1:95582591-95583715	HepG2	liver:	n/a	chr1:95583236-95583247 chr1:95583661-95583670 chr1:95583525-95583539 chr1:95582891-95582905 chr1:95582940-95582954 chr1:95582637-95582651 chr1:95583233-95583247 chr1:95583658-95583669
45	MAZ	chr1:95582326-95583624	HepG2	liver:	n/a	chr1:95582839-95582849
46	MAX	chr1:95582162-95583828	HCT-116	colon:	n/a	chr1:95582839-95582849 chr1:95583662-95583672
47	CHD2	chr1:95582251-95583700	Hela-S3	cervix:	n/a	chr1:95583227-95583237
48	BHLHE40	chr1:95582280-95583563	K562	blood:	n/a	chr1:95583129-95583145 chr1:95583132-95583148 chr1:95582635-95582651
49	SIN3A	chr1:95582279-95583614	H1-hESC	embryonic stem cell:	n/a	chr1:95583060-95583069 chr1:95583234-95583247
50	HA-E2F1	chr1:95582236-95583750	MCF-7	breast:	n/a	chr1:95583278-95583289 chr1:95583278-95583290 chr1:95582289-95582298 chr1:95582642-95582651 chr1:95583131-95583141 chr1:95583661-95583670

No.	Distal block	Cell Line	Cell type
1	chr1:95581571..95584597-chr1:95698513..95700535,3	MCF-7	breast:
2	chr1:95582616..95585939-chr1:95698259..95700506,4	K562	blood:
3	chr1:95581745..95584156-chr1:95699309..95702187,2	MCF-7	breast:
4	chr1:95582782..95583689-chr1:167189292..167190213,2	Hela-S3	cervix:
5	chr1:95582556..95585358-chr1:95698094..95701319,5	K562	blood:
6	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:

Variant related genes	Relation type
ENSG00000231992	TF binding region
TMEM56-RWDD3	TF binding region
TMEM56	TF binding region
ENSG00000122481	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000206679	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	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
5	nsv823609	chr1:95582618-95583747	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95582000-95583400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr1:95582000-95583600	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:95582000-95584200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:95582000-95584800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:95582200-95583400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:95582200-95583400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:95582200-95583400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:95582200-95583400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:95582200-95583400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:95582200-95583400	Active TSS	Psoas Muscle	Psoas
11	chr1:95582200-95583400	Active TSS	NHLF	lung
12	chr1:95582200-95583600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr1:95582200-95583600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:95582200-95583600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:95582200-95583600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr1:95582200-95583600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr1:95582200-95583600	Active TSS	Duodenum Mucosa	Duodenum
18	chr1:95582200-95583600	Active TSS	Fetal Brain Female	brain
19	chr1:95582200-95583600	Active TSS	Fetal Kidney	kidney
20	chr1:95582200-95583800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:95582200-95583800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:95582200-95583800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:95582200-95583800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:95582200-95583800	Bivalent/Poised TSS	NHDF-Ad	bronchial
25	chr1:95582200-95584000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr1:95582200-95584000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:95582200-95584000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:95582200-95584000	Active TSS	Aorta	Aorta
29	chr1:95582200-95584000	Active TSS	Brain Angular Gyrus	brain
30	chr1:95582200-95584000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:95582200-95584000	Active TSS	Colon Smooth Muscle	Colon
32	chr1:95582200-95584000	Active TSS	Left Ventricle	heart
33	chr1:95582200-95584200	Active TSS	A549	lung
34	chr1:95582200-95584400	Active TSS	Brain Cingulate Gyrus	brain
35	chr1:95582200-95584400	Active TSS	Rectal Smooth Muscle	rectum
36	chr1:95582200-95584600	Active TSS	Right Atrium	heart
37	chr1:95582200-95584600	Active TSS	Right Ventricle	heart
38	chr1:95582400-95583400	Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr1:95582400-95583600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr1:95582400-95583600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:95582400-95583600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:95582400-95583600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:95582400-95583600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:95582400-95583600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr1:95582400-95583600	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:95582400-95583600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:95582400-95583600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:95582400-95583600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr1:95582400-95583600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:95582400-95583600	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood

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