Variant report

Variant	rs185308131
Chromosome Location	chr1:92952534-92952535
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	RUNX3	chr1:92952087-92953089	GM12878	blood:	n/a	n/a
2	RUNX3	chr1:92949941-92952763	GM12878	blood:	n/a	chr1:92950835-92950850
3	POU2F2	chr1:92952173-92952687	GM12891	blood:	n/a	n/a
4	POLR2A	chr1:92952109-92952607	GM12891	blood:	n/a	n/a
5	ELF1	chr1:92952319-92952627	HepG2	liver:	n/a	chr1:92952526-92952538
6	EGR1	chr1:92952049-92952668	GM12878	blood:	n/a	chr1:92952520-92952530 chr1:92952081-92952091 chr1:92952099-92952109 chr1:92952086-92952099 chr1:92952076-92952091 chr1:92952077-92952090 chr1:92952080-92952090 chr1:92952517-92952530
7	POLR2A	chr1:92952181-92952769	HepG2	liver:	n/a	n/a
8	CTCF	chr1:92952420-92952570	Caco-2	colon:	n/a	n/a
9	POLR2A	chr1:92947404-92952793	GM19193	blood:	n/a	n/a
10	CTCF	chr1:92952517-92952539	GM20000	blood:	n/a	n/a
11	HEY1	chr1:92952251-92952807	HepG2	liver:	n/a	chr1:92952520-92952535 chr1:92952515-92952530
12	YY1	chr1:92952278-92952709	GM12891	blood:	n/a	chr1:92952523-92952534 chr1:92952522-92952536 chr1:92952525-92952539
13	RELA	chr1:92950123-92952753	GM19193	blood:	n/a	n/a
14	POLR2A	chr1:92952293-92952764	HepG2	liver:	n/a	n/a
15	REST	chr1:92952164-92953259	HL-60	blood:	n/a	n/a
16	CTCF	chr1:92952420-92952660	GM12878	blood:	n/a	n/a
17	CTCF	chr1:92952420-92952570	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr1:92952440-92952590	HAc	cerebellar:	n/a	n/a
19	CTCF	chr1:92952318-92952767	GM12878	blood:	n/a	n/a
20	ZBTB7A	chr1:92952393-92952568	HepG2	liver:	n/a	chr1:92952417-92952428 chr1:92952487-92952498 chr1:92952488-92952499
21	POLR2A	chr1:92951012-92952743	HEK293	kidney:	n/a	n/a
22	RAD21	chr1:92952240-92952760	H1-hESC	embryonic stem cell:	n/a	n/a
23	HEY1	chr1:92952260-92952755	HepG2	liver:	n/a	chr1:92952520-92952535 chr1:92952515-92952530
24	POLR2A	chr1:92952289-92952709	HepG2	liver:	n/a	n/a
25	MAX	chr1:92952393-92952816	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:92952416-92952635	GM10266	blood:	n/a	n/a
27	CTCF	chr1:92952474-92952616	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr1:92952235-92952824	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:92952282-92952668	HCT-116	colon:	n/a	n/a
30	E2F6	chr1:92952366-92952730	A549	lung:	n/a	chr1:92952532-92952542 chr1:92952520-92952530
31	BHLHE40	chr1:92952253-92952770	GM12878	blood:	n/a	chr1:92952525-92952541
32	TBP	chr1:92952530-92952730	GM12878	blood:	n/a	n/a
33	CTCF	chr1:92952460-92952610	GM12867	blood:	n/a	n/a
34	SIN3AK20	chr1:92952266-92952594	HepG2	liver:	n/a	n/a
35	CTCF	chr1:92952440-92952590	HepG2	liver:	n/a	n/a
36	YY1	chr1:92952239-92952693	GM12878	blood:	n/a	chr1:92952523-92952534 chr1:92952522-92952536 chr1:92952525-92952539
37	POLR2A	chr1:92948302-92953063	GM12878	blood:	n/a	n/a
38	MXI1	chr1:92952278-92952693	HepG2	liver:	n/a	n/a
39	CTCF	chr1:92952475-92952575	SK-N-SH_RA	brain:	n/a	n/a
40	MTA3	chr1:92952053-92952845	GM12878	blood:	n/a	n/a
41	YY1	chr1:92952184-92952680	HepG2	liver:	n/a	chr1:92952523-92952534 chr1:92952522-92952536 chr1:92952525-92952539
42	TBP	chr1:92952333-92952740	HepG2	liver:	n/a	n/a
43	CTCF	chr1:92952420-92952570	GM12869	blood:	n/a	n/a
44	SUZ12	chr1:92945372-92953085	NT2-D1	testis:	n/a	n/a
45	E2F6	chr1:92952299-92952929	H1-hESC	embryonic stem cell:	n/a	chr1:92952532-92952542 chr1:92952520-92952530
46	CTCF	chr1:92952440-92952590	GM06990	blood:	n/a	n/a
47	POLR2A	chr1:92952248-92952684	GM12878	blood:	n/a	n/a
48	ZNF143	chr1:92952205-92952688	GM12878	blood:	n/a	chr1:92952526-92952536
49	POLR2A	chr1:92947650-92952772	GM18951	blood:	n/a	n/a
50	TBL1XR1	chr1:92952170-92952663	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:92952517-92952567	Hela-S3	cervix:	n/a
2	chr1:92952521-92952571	SK-N-SH_RA	brain:	n/a
3	chr1:92952517-92952567	ECC-1	luminal epithelium:	n/a
4	chr1:92952533-92952583	HNPCEpiC	eye:	n/a
5	chr1:92952533-92952583	H1-hESC	embryonic stem cell:	embryo
6	chr1:92952517-92952567	U87	brain:	n/a
7	chr1:92952517-92952567	HMEC	breast:	n/a
8	chr1:92952517-92952567	HPAEpiC	pulmonary alveolar:	n/a
9	chr1:92952521-92952571	CMK	blood:	n/a
10	chr1:92952533-92952583	A549	lung:	n/a
11	chr1:92952517-92952567	HRPEpiC	eye:	n/a
12	chr1:92952521-92952571	HL-60	blood:	n/a
13	chr1:92952517-92952567	ovcar-3	ovarian:	n/a
14	chr1:92952517-92952567	CMK	blood:	n/a
15	chr1:92952521-92952571	HepG2	liver:	n/a
16	chr1:92952521-92952571	AG04450	lung:	fetal
17	chr1:92952517-92952567	AG09309	skin:	n/a
18	chr1:92952533-92952583	AG09319	gingival:	n/a
19	chr1:92952521-92952571	AG09319	gingival:	n/a
20	chr1:92952517-92952567	Jurkat	blood:	n/a
21	chr1:92952533-92952583	HCT-116	colon:	n/a
22	chr1:92952533-92952583	NB4	blood:	n/a
23	chr1:92952521-92952571	GM12892	blood:	n/a
24	chr1:92952521-92952571	AG04449	skin:	fetal
25	chr1:92952533-92952583	SK-N-SH_RA	brain:	n/a
26	chr1:92952521-92952571	AG10803	skin:	n/a
27	chr1:92952533-92952583	AG04450	lung:	fetal
28	chr1:92952517-92952567	HEEpiC	esophagus:	n/a
29	chr1:92952521-92952571	A549	lung:	n/a
30	chr1:92952521-92952571	BJ	skin:	n/a
31	chr1:92952517-92952567	GM12892	blood:	n/a
32	chr1:92952533-92952583	AoSMC	blood vessel:	n/a
33	chr1:92952521-92952571	HUVEC	blood vessel:	n/a
34	chr1:92952533-92952583	BJ	skin:	n/a
35	chr1:92952521-92952571	PrEC	prostate:	n/a
36	chr1:92952533-92952583	AG09309	skin:	n/a
37	chr1:92952533-92952583	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:92952533-92952583	NH-A	brain:	n/a
39	chr1:92952517-92952567	NH-A	brain:	n/a
40	chr1:92952521-92952571	SKMC	muscle:	n/a
41	chr1:92952521-92952571	SK-N-MC	brain:	n/a
42	chr1:92952533-92952583	HIPEpiC	eye:	n/a
43	chr1:92952521-92952571	HRE	kidney:	n/a
44	chr1:92952521-92952571	HCF	heart:	n/a
45	chr1:92952533-92952583	U87	brain:	n/a
46	chr1:92952521-92952571	GM06990	blood:	n/a
47	chr1:92952517-92952567	SK-N-SH	brain:	n/a
48	chr1:92952533-92952583	GM06990	blood:	n/a
49	chr1:92952517-92952567	HCM	heart:	n/a
50	chr1:92952533-92952583	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92952059..92953057-chr7:73097780..73098366,2	NB4	blood:

Variant related genes	Relation type
GFI1	TF binding region
GFI1	CpG island
ENSG00000176410	Chromatin interaction
ENSG00000071462	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3421594	chr1:92950889-92953737	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92945600-92952600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:92945600-92952800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr1:92947400-92952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:92947800-92952600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:92948000-92952600	Bivalent/Poised TSS	Small Intestine	intestine
6	chr1:92948000-92952800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr1:92948200-92952600	Bivalent Enhancer	Fetal Brain Male	brain
8	chr1:92948400-92952600	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr1:92948400-92953000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:92948600-92952600	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr1:92948600-92952800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:92949000-92953000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:92949200-92953400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr1:92950600-92952600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:92950600-92952800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:92950600-92953000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr1:92950600-92953000	Active TSS	Primary T cells from cord blood	blood
18	chr1:92950800-92952600	Active TSS	Primary T cells fromperipheralblood	blood
19	chr1:92950800-92952600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:92950800-92952600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
21	chr1:92950800-92952800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:92950800-92952800	Active TSS	Right Atrium	heart
23	chr1:92951000-92952600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:92951000-92952600	Active TSS	Primary monocytes fromperipheralblood	blood
25	chr1:92951000-92952600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
26	chr1:92951000-92952600	Active TSS	Fetal Thymus	thymus
27	chr1:92951000-92952600	Active TSS	Ovary	ovary
28	chr1:92951000-92952800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:92951000-92952800	Bivalent/Poised TSS	A549	lung
30	chr1:92951000-92952800	Bivalent/Poised TSS	NHEK	skin
31	chr1:92951200-92952600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:92951200-92952600	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr1:92951200-92952800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr1:92951400-92952600	Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr1:92951400-92952600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr1:92951400-92952800	Active TSS	Pancreas	Pancrea
37	chr1:92951400-92952800	Active TSS	Rectal Smooth Muscle	rectum
38	chr1:92951600-92952600	Active TSS	Aorta	Aorta
39	chr1:92951600-92952600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
40	chr1:92951600-92952600	Active TSS	HSMM	muscle
41	chr1:92951800-92952600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:92951800-92952600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
43	chr1:92951800-92952600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:92951800-92952600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
45	chr1:92951800-92952600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
46	chr1:92951800-92952600	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr1:92951800-92952600	Bivalent/Poised TSS	NHLF	lung
48	chr1:92951800-92952800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:92951800-92952800	Bivalent/Poised TSS	NH-A	brain
50	chr1:92952000-92952600	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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