Variant report

Variant	rs72837775
Chromosome Location	chr6:24774872-24774873
allele	C/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	ZNF143	chr6:24774868-24776088	K562	blood:	n/a	n/a
3	POLR2A	chr6:24774855-24776130	MCF10A-Er-Src	breast:	n/a	n/a
4	ELF1	chr6:24774765-24775802	K562	blood:	n/a	chr6:24775574-24775585
5	POLR2A	chr6:24774792-24775917	SK-N-SH	brain:	n/a	n/a
6	MYC	chr6:24774647-24775943	NB4	blood:	n/a	n/a
7	ZC3H11A	chr6:24774810-24775441	K562	blood:	n/a	n/a
8	POLR2A	chr6:24774650-24775908	HCT-116	colon:	n/a	n/a
9	POLR2A	chr6:24774851-24776162	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr6:24774693-24777046	GM12892	blood:	n/a	n/a
11	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
12	MAX	chr6:24774784-24775841	ECC-1	luminal epithelium:	n/a	n/a
13	MXI1	chr6:24774835-24776290	GM12878	blood:	n/a	n/a
14	CREB1	chr6:24774747-24776302	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:24774810-24776017	MCF-7	breast:	n/a	n/a
16	MXI1	chr6:24774576-24776421	IMR90	lung:	n/a	n/a
17	HNF4G	chr6:24774827-24775581	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
18	POLR2A	chr6:24774765-24776298	GM18505	blood:	n/a	n/a
19	POLR2A	chr6:24774570-24776016	HL-60	blood:	n/a	n/a
20	POLR2A	chr6:24774819-24775933	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr6:24774763-24776287	K562	blood:	n/a	n/a
22	SIN3A	chr6:24774602-24776180	H1-hESC	embryonic stem cell:	n/a	chr6:24775672-24775681
23	USF2	chr6:24774697-24776186	H1-hESC	embryonic stem cell:	n/a	chr6:24775171-24775182
24	MXI1	chr6:24774753-24776160	HepG2	liver:	n/a	n/a
25	MYC	chr6:24774628-24776194	K562	blood:	n/a	n/a
26	POLR2A	chr6:24774767-24776156	PANC-1	pancreas:	n/a	n/a
27	CREB1	chr6:24774834-24776079	K562	blood:	n/a	n/a
28	BCLAF1	chr6:24774660-24775889	GM12878	blood:	n/a	chr6:24775359-24775368 chr6:24775456-24775469 chr6:24775571-24775580
29	POLR2A	chr6:24774467-24776165	K562	blood:	n/a	n/a
30	TAF1	chr6:24774768-24775952	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr6:24774839-24776212	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:24774550-24775925	NB4	blood:	n/a	n/a
33	RCOR1	chr6:24774284-24776344	K562	blood:	n/a	n/a
34	MYC	chr6:24774807-24775224	MCF10A-Er-Src	breast:	n/a	n/a
35	TEAD4	chr6:24774619-24775764	K562	blood:	n/a	n/a
36	RFX5	chr6:24774846-24776132	GM12878	blood:	n/a	chr6:24775543-24775552
37	POLR2A	chr6:24774784-24775934	GM19099	blood:	n/a	n/a
38	BRCA1	chr6:24774857-24776299	Hela-S3	cervix:	n/a	n/a
39	REST	chr6:24774789-24776099	H1-neurons	neurons:	n/a	n/a
40	MAX	chr6:24774836-24776329	MCF-7	breast:	n/a	n/a
41	POLR2A	chr6:24774861-24776020	U87	brain:	n/a	n/a
42	POLR2A	chr6:24774625-24775843	HCT-116	colon:	n/a	n/a
43	POLR2A	chr6:24774867-24775859	HepG2	liver:	n/a	n/a
44	POLR2A	chr6:24774467-24776232	K562	blood:	n/a	n/a
45	PAX5	chr6:24774871-24775194	GM12878	blood:	n/a	n/a
46	MAZ	chr6:24774852-24776254	Hela-S3	cervix:	n/a	n/a
47	CREB1	chr6:24774836-24776241	GM12878	blood:	n/a	n/a
48	RCOR1	chr6:24774673-24775826	K562	blood:	n/a	n/a
49	POLR2A	chr6:24774813-24776456	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr6:24774805-24776244	Hela-S3	cervix:	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
ENSG00000112308	Chromatin interaction
ENSG00000111802	Chromatin interaction
ENSG00000272402	Chromatin interaction
ENSG00000112293	Chromatin interaction
ENSG00000112304	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000129226	Chromatin interaction
ENSG00000112294	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:122 , 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	chr6:24774600-24775000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:24774600-24775000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr6:24774600-24775000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr6:24774600-24775000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr6:24774600-24775000	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr6:24774600-24775000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr6:24774600-24775000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr6:24774600-24775000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr6:24774600-24775000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr6:24774600-24775000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:24774600-24775000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr6:24774600-24775000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:24774600-24775000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr6:24774600-24775000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:24774600-24775000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:24774600-24775000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr6:24774600-24775000	Flanking Active TSS	Fetal Thymus	thymus
44	chr6:24774600-24775000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr6:24774600-24775000	Active TSS	Right Atrium	heart
46	chr6:24774600-24775000	Flanking Active TSS	GM12878-XiMat	blood
47	chr6:24774600-24775000	Flanking Active TSS	Hela-S3	cervix
48	chr6:24774600-24775000	Flanking Active TSS	HepG2	liver
49	chr6:24774600-24775000	Flanking Active TSS	HUVEC	blood vessel
50	chr6:24774600-24775000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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