Variant report

Variant	rs189893886
Chromosome Location	chr6:24774794-24774795
allele	A/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	USF2	chr6:24774762-24775830	GM12878	blood:	n/a	chr6:24775171-24775182
2	ELF1	chr6:24774765-24775802	K562	blood:	n/a	chr6:24775574-24775585
3	POLR2A	chr6:24774792-24775917	SK-N-SH	brain:	n/a	n/a
4	MYC	chr6:24774647-24775943	NB4	blood:	n/a	n/a
5	POLR2A	chr6:24774650-24775908	HCT-116	colon:	n/a	n/a
6	POLR2A	chr6:24774693-24777046	GM12892	blood:	n/a	n/a
7	HNF4A	chr6:24774774-24775231	HepG2	liver:	n/a	chr6:24775019-24775034 chr6:24775020-24775032 chr6:24775019-24775033 chr6:24775020-24775032 chr6:24775019-24775032 chr6:24775020-24775033 chr6:24775019-24775033 chr6:24775017-24775035 chr6:24775015-24775037 chr6:24775020-24775032 chr6:24775019-24775034 chr6:24775019-24775033 chr6:24775018-24775033
8	MAX	chr6:24774784-24775841	ECC-1	luminal epithelium:	n/a	n/a
9	CREB1	chr6:24774747-24776302	HepG2	liver:	n/a	n/a
10	MXI1	chr6:24774576-24776421	IMR90	lung:	n/a	n/a
11	POLR2A	chr6:24774765-24776298	GM18505	blood:	n/a	n/a
12	POLR2A	chr6:24774570-24776016	HL-60	blood:	n/a	n/a
13	POLR2A	chr6:24774763-24776287	K562	blood:	n/a	n/a
14	SIN3A	chr6:24774602-24776180	H1-hESC	embryonic stem cell:	n/a	chr6:24775672-24775681
15	USF2	chr6:24774697-24776186	H1-hESC	embryonic stem cell:	n/a	chr6:24775171-24775182
16	MXI1	chr6:24774753-24776160	HepG2	liver:	n/a	n/a
17	MYC	chr6:24774628-24776194	K562	blood:	n/a	n/a
18	POLR2A	chr6:24774767-24776156	PANC-1	pancreas:	n/a	n/a
19	BCLAF1	chr6:24774660-24775889	GM12878	blood:	n/a	chr6:24775359-24775368 chr6:24775456-24775469 chr6:24775571-24775580
20	POLR2A	chr6:24774467-24776165	K562	blood:	n/a	n/a
21	TAF1	chr6:24774768-24775952	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr6:24774550-24775925	NB4	blood:	n/a	n/a
23	RCOR1	chr6:24774284-24776344	K562	blood:	n/a	n/a
24	TEAD4	chr6:24774619-24775764	K562	blood:	n/a	n/a
25	POLR2A	chr6:24774784-24775934	GM19099	blood:	n/a	n/a
26	REST	chr6:24774789-24776099	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr6:24774625-24775843	HCT-116	colon:	n/a	n/a
28	POLR2A	chr6:24774467-24776232	K562	blood:	n/a	n/a
29	RCOR1	chr6:24774673-24775826	K562	blood:	n/a	n/a
30	EP300	chr6:24774661-24775392	K562	blood:	n/a	n/a
31	ARID3A	chr6:24774568-24775478	K562	blood:	n/a	n/a
32	MTA3	chr6:24774606-24776308	GM12878	blood:	n/a	n/a
33	USF2	chr6:24774781-24775556	K562	blood:	n/a	chr6:24775171-24775182
34	POLR2A	chr6:24774747-24776282	K562	blood:	n/a	n/a
35	TAF1	chr6:24774597-24775997	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr6:24774683-24776147	HEK293	kidney:	n/a	n/a
37	POLR2A	chr6:24774594-24775922	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr6:24774754-24775932	GM12878	blood:	n/a	n/a
39	USF1	chr6:24774779-24775709	HCT-116	colon:	n/a	n/a
40	PML	chr6:24774668-24776158	K562	blood:	n/a	n/a
41	MXI1	chr6:24774525-24777099	SK-N-SH	brain:	n/a	n/a
42	HEY1	chr6:24774785-24775942	K562	blood:	n/a	n/a
43	POLR2A	chr6:24774582-24777044	K562	blood:	n/a	n/a
44	NR2F2	chr6:24774654-24775983	MCF-7	breast:	n/a	chr6:24775017-24775032
45	ARID3A	chr6:24774756-24776138	HepG2	liver:	n/a	chr6:24775560-24775568
46	MYBL2	chr6:24774760-24776235	HepG2	liver:	n/a	n/a
47	TRIM28	chr6:24774539-24776199	K562	blood:	n/a	n/a
48	PML	chr6:24774714-24776072	K562	blood:	n/a	n/a
49	RELA	chr6:24774644-24776104	GM18505	blood:	n/a	n/a
50	REST	chr6:24774582-24776025	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:24706431..24709046-chr6:24773872..24777096,3	K562	blood:
2	chr6:24718549..24722818-chr6:24771512..24777723,8	MCF-7	breast:
3	chr6:24774752..24775406-chr7:100486913..100487602,2	HCT-116	colon:
4	chr6:24666490..24670247-chr6:24774150..24780460,9	K562	blood:
5	chr6:24711892..24724164-chr6:24769415..24786834,81	K562	blood:
6	chr6:24493803..24496211-chr6:24773975..24776646,3	K562	blood:
7	chr17:7482194..7483174-chr6:24774784..24775711,2	NB4	blood:
8	chr6:24715365..24725462-chr6:24770390..24783002,86	K562	blood:
9	chr6:24717870..24723661-chr6:24773711..24778808,16	MCF-7	breast:
10	chr6:24665480..24670247-chr6:24773496..24779775,9	K562	blood:
11	chr6:24705180..24707870-chr6:24773614..24775393,3	K562	blood:

Variant related genes	Relation type
GMNN	TF binding region
ENSG00000112293	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000129226	Chromatin interaction
ENSG00000111802	Chromatin interaction
ENSG00000112294	Chromatin interaction
ENSG00000112304	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000272402	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	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv428474	chr6:24714157-24797977	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv5227	chr6:24774149-24824012	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24760400-24775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:24774000-24775000	Flanking Active TSS	Dnd41	blood
3	chr6:24774200-24776000	Active TSS	Duodenum Mucosa	Duodenum
4	chr6:24774200-24776600	Active TSS	Fetal Brain Female	brain
5	chr6:24774200-24777000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:24774200-24778200	Active TSS	K562	blood
7	chr6:24774400-24775000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr6:24774400-24775000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr6:24774400-24775000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:24774400-24775600	Active TSS	Primary T cells fromperipheralblood	blood
11	chr6:24774400-24776000	Active TSS	Fetal Muscle Trunk	muscle
12	chr6:24774400-24776000	Active TSS	Placenta	Placenta
13	chr6:24774400-24776400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:24774400-24776400	Active TSS	Fetal Intestine Large	intestine
15	chr6:24774400-24776400	Active TSS	Placenta Amnion	Placenta Amnion
16	chr6:24774400-24776400	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr6:24774400-24776400	Active TSS	Stomach Smooth Muscle	stomach
18	chr6:24774400-24776600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:24774400-24776600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:24774400-24776600	Active TSS	Fetal Intestine Small	intestine
21	chr6:24774400-24776600	Active TSS	Thymus	Thymus
22	chr6:24774400-24776800	Active TSS	Brain Hippocampus Middle	brain
23	chr6:24774400-24776800	Active TSS	Colonic Mucosa	Colon
24	chr6:24774400-24777000	Active TSS	Brain Germinal Matrix	brain
25	chr6:24774400-24777200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr6:24774400-24778400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr6:24774600-24774800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:24774600-24774800	Flanking Active TSS	Liver	Liver
29	chr6:24774600-24774800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr6:24774600-24774800	Flanking Active TSS	Fetal Heart	heart
31	chr6:24774600-24774800	Enhancers	Right Ventricle	heart
32	chr6:24774600-24774800	Flanking Active TSS	Stomach Mucosa	stomach
33	chr6:24774600-24775000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr6:24774600-24775000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:24774600-24775000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr6:24774600-24775000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr6:24774600-24775000	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr6:24774600-24775000	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr6:24774600-24775000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr6:24774600-24775000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr6:24774600-24775000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr6:24774600-24775000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:24774600-24775000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr6:24774600-24775000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:24774600-24775000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr6:24774600-24775000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:24774600-24775000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:24774600-24775000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr6:24774600-24775000	Flanking Active TSS	Fetal Thymus	thymus
50	chr6:24774600-24775000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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