Variant report

Variant	rs188741204
Chromosome Location	chr1:92952026-92952027
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	RUNX3	chr1:92949941-92952763	GM12878	blood:	n/a	chr1:92950835-92950850
2	SPI1	chr1:92951016-92952202	HL-60	blood:	n/a	n/a
3	POLR2A	chr1:92947404-92952793	GM19193	blood:	n/a	n/a
4	RELA	chr1:92950123-92952753	GM19193	blood:	n/a	n/a
5	POLR2A	chr1:92951012-92952743	HEK293	kidney:	n/a	n/a
6	POLR2A	chr1:92948302-92953063	GM12878	blood:	n/a	n/a
7	SUZ12	chr1:92945372-92953085	NT2-D1	testis:	n/a	n/a
8	POLR2A	chr1:92951935-92952235	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:92949883-92952028	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:92947650-92952772	GM18951	blood:	n/a	n/a
11	ELF1	chr1:92947785-92952063	GM12878	blood:	n/a	chr1:92949334-92949343 chr1:92949903-92949915 chr1:92949809-92949821 chr1:92951584-92951596
12	STAT5A	chr1:92951243-92952034	GM12878	blood:	n/a	n/a
13	RUNX3	chr1:92950618-92952049	GM12878	blood:	n/a	chr1:92950835-92950850
14	EGR1	chr1:92950032-92952031	HCT-116	colon:	n/a	chr1:92951290-92951300 chr1:92951485-92951498 chr1:92950289-92950303 chr1:92951523-92951533 chr1:92951486-92951495 chr1:92951485-92951498 chr1:92951074-92951084 chr1:92951286-92951300 chr1:92951523-92951536 chr1:92950956-92950969 chr1:92951709-92951718 chr1:92951480-92951502 chr1:92951772-92951782 chr1:92951485-92951498
15	FOXM1	chr1:92951278-92952042	GM12878	blood:	n/a	chr1:92952005-92952013
16	POLR2A	chr1:92947824-92952778	GM18505	blood:	n/a	n/a
17	MTA3	chr1:92951707-92952034	GM12878	blood:	n/a	n/a
18	ZEB1	chr1:92950595-92952074	HepG2	liver:	n/a	n/a
19	MTA3	chr1:92949554-92952767	GM12878	blood:	n/a	n/a
20	SPI1	chr1:92951518-92952050	HL-60	blood:	n/a	n/a
21	REST	chr1:92948762-92952121	HL-60	blood:	n/a	chr1:92951071-92951084 chr1:92949941-92949950 chr1:92949662-92949675 chr1:92949367-92949380 chr1:92951174-92951187 chr1:92949983-92950001 chr1:92949715-92949724
22	MAX	chr1:92949868-92952051	HepG2	liver:	n/a	chr1:92949942-92949951 chr1:92951472-92951482
23	POLR2A	chr1:92951023-92952040	GM12891	blood:	n/a	n/a
24	POLR2A	chr1:92943372-92953100	NB4	blood:	n/a	n/a
25	MAZ	chr1:92949233-92952685	GM12878	blood:	n/a	chr1:92952080-92952090 chr1:92949942-92949951 chr1:92951472-92951482 chr1:92952098-92952108
26	POLR2A	chr1:92937389-92953582	HL-60	blood:	n/a	n/a
27	POLR2A	chr1:92948007-92953125	GM12891	blood:	n/a	n/a
28	POLR2A	chr1:92949958-92952746	GM10847	blood:	n/a	n/a
29	SPI1	chr1:92951822-92952050	GM12891	blood:	n/a	n/a
30	POLR2A	chr1:92947823-92952727	GM18526	blood:	n/a	n/a
31	POLR2A	chr1:92949327-92952037	GM12891	blood:	n/a	n/a
32	POLR2A	chr1:92947848-92952998	GM15510	blood:	n/a	n/a
33	POLR2A	chr1:92949659-92952060	GM12892	blood:	n/a	n/a
34	POLR2A	chr1:92943291-92953187	HL-60	blood:	n/a	n/a
35	SPI1	chr1:92951619-92952035	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:92950701-92952050	HepG2	liver:	n/a	n/a
37	PML	chr1:92948799-92952797	GM12878	blood:	n/a	chr1:92951981-92951989
38	POLR2A	chr1:92947864-92952775	GM19099	blood:	n/a	n/a
39	NFIC	chr1:92951256-92952064	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92951557..92952166-chr11:62608625..62609584,2	NB4	blood:

Variant related genes	Relation type
GFI1	TF binding region
ENSG00000133316	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92945600-92952200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:92945600-92952600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:92945600-92952800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:92947400-92952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:92947600-92952200	Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr1:92947600-92952400	Active TSS	Thymus	Thymus
7	chr1:92947800-92952600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:92948000-92952600	Bivalent/Poised TSS	Small Intestine	intestine
9	chr1:92948000-92952800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr1:92948200-92952600	Bivalent Enhancer	Fetal Brain Male	brain
11	chr1:92948400-92952600	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr1:92948400-92953000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:92948600-92952200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:92948600-92952600	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr1:92948600-92952800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:92949000-92953000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:92949200-92953400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr1:92949800-92952400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:92950000-92952400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:92950600-92952200	Active TSS	GM12878-XiMat	blood
21	chr1:92950600-92952400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:92950600-92952400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:92950600-92952600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:92950600-92952800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:92950600-92953000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr1:92950600-92953000	Active TSS	Primary T cells from cord blood	blood
27	chr1:92950800-92952400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr1:92950800-92952600	Active TSS	Primary T cells fromperipheralblood	blood
29	chr1:92950800-92952600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:92950800-92952600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
31	chr1:92950800-92952800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr1:92950800-92952800	Active TSS	Right Atrium	heart
33	chr1:92951000-92952200	Bivalent Enhancer	Fetal Lung	lung
34	chr1:92951000-92952400	Bivalent/Poised TSS	Esophagus	oesophagus
35	chr1:92951000-92952600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:92951000-92952600	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr1:92951000-92952600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
38	chr1:92951000-92952600	Active TSS	Fetal Thymus	thymus
39	chr1:92951000-92952600	Active TSS	Ovary	ovary
40	chr1:92951000-92952800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr1:92951000-92952800	Bivalent/Poised TSS	A549	lung
42	chr1:92951000-92952800	Bivalent/Poised TSS	NHEK	skin
43	chr1:92951200-92952600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:92951200-92952600	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr1:92951200-92952800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr1:92951400-92952400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:92951400-92952400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr1:92951400-92952600	Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr1:92951400-92952600	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr1:92951400-92952800	Active TSS	Pancreas	Pancrea

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