Variant report

Variant	rs548682404
Chromosome Location	chr6:33387843-33387844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr6:33384157-33388027	K562	blood:	n/a	chr6:33387272-33387283 chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
2	POLR2A	chr6:33387646-33387850	K562	blood:	n/a	n/a
3	SIN3A	chr6:33387536-33387992	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:33387633-33387985	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:33387626-33388285	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr6:33387718-33387946	H1-hESC	embryonic stem cell:	n/a	n/a
7	EGR1	chr6:33387785-33388075	K562	blood:	n/a	n/a
8	MAZ	chr6:33387360-33389235	IMR90	lung:	n/a	chr6:33388927-33388937
9	ZNF143	chr6:33387674-33388014	H1-hESC	embryonic stem cell:	n/a	n/a
10	GTF2F1	chr6:33387737-33387851	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr6:33387532-33387883	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr6:33387703-33387900	GM12878	blood:	n/a	n/a
13	ZBTB7A	chr6:33387539-33387946	K562	blood:	n/a	n/a
14	POLR2A	chr6:33387516-33388328	H1-neurons	neurons:	n/a	n/a
15	TAF1	chr6:33387509-33388002	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr6:33387629-33387964	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAZ	chr6:33387563-33388030	K562	blood:	n/a	n/a
18	POLR2A	chr6:33387558-33387952	PFSK-1	brain:	n/a	n/a
19	RCOR1	chr6:33387745-33387982	K562	blood:	n/a	n/a
20	POLR2A	chr6:33387650-33387908	ProgFib	skin:	n/a	n/a
21	REST	chr6:33387196-33388764	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr6:33387414-33387946	IMR90	lung:	n/a	n/a
23	CHD2	chr6:33387678-33387848	K562	blood:	n/a	n/a
24	MAZ	chr6:33387631-33387988	GM12878	blood:	n/a	n/a
25	EGR1	chr6:33387717-33387987	K562	blood:	n/a	chr6:33387766-33387779 chr6:33387769-33387779

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33242365..33247657-chr6:33386109..33388284,6	K562	blood:
2	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
3	chr6:33385453..33389637-chr6:33419628..33424957,5	MCF-7	breast:
4	chr6:33365854..33369434-chr6:33385468..33388336,3	K562	blood:
5	chr6:33264378..33268881-chr6:33383627..33388443,14	K562	blood:
6	chr6:33357638..33360083-chr6:33386720..33388943,3	MCF-7	breast:
7	chr6:33356382..33361019-chr6:33384058..33388661,8	K562	blood:
8	chr6:33285422..33287849-chr6:33385883..33388858,2	MCF-7	breast:
9	chr6:33237639..33241732-chr6:33383253..33390116,11	K562	blood:
10	chr6:33357335..33362175-chr6:33383352..33389421,14	K562	blood:
11	chr6:33242542..33249529-chr6:33381747..33388277,18	K562	blood:
12	chr6:33279097..33283546-chr6:33386045..33390564,5	MCF-7	breast:
13	chr6:33237802..33241730-chr6:33382199..33389112,10	K562	blood:

No data

Variant related genes	Relation type
SYNGAP1	TF binding region
CUTA	TF binding region
ENSG00000227057	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000204194	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000236104	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv885769	chr6:33377522-33412197	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv932196	chr6:33383131-33400706	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
6	esv3491403	chr6:33386574-33390272	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
7	esv3491404	chr6:33386574-33390272	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
8	esv3325690	chr6:33386999-33389547	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	esv3404776	chr6:33387074-33389997	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33386000-33392600	Weak transcription	Gastric	stomach
2	chr6:33386200-33388000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:33386200-33388000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:33386200-33389400	Flanking Active TSS	Dnd41	blood
5	chr6:33386600-33388000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:33386600-33388000	Enhancers	HMEC	breast
7	chr6:33386600-33388400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:33386600-33389200	Enhancers	Fetal Heart	heart
9	chr6:33386800-33388000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:33386800-33388000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:33386800-33388000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:33386800-33389000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:33386800-33389800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:33386800-33392600	Weak transcription	Left Ventricle	heart
15	chr6:33387000-33388400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr6:33387000-33392200	Weak transcription	Hela-S3	cervix
17	chr6:33387200-33388000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr6:33387200-33388000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:33387200-33388800	Active TSS	Fetal Brain Female	brain
20	chr6:33387400-33388000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:33387400-33388000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
22	chr6:33387400-33388200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:33387400-33388600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:33387400-33388600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:33387400-33388600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:33387400-33389000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr6:33387400-33389200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr6:33387400-33389600	Active TSS	Brain Angular Gyrus	brain
29	chr6:33387400-33392200	Weak transcription	Placenta	Placenta
30	chr6:33387400-33392200	Weak transcription	Spleen	Spleen
31	chr6:33387600-33388000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr6:33387600-33388000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr6:33387600-33388000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr6:33387600-33388000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:33387600-33388000	Active TSS	Brain Substantia Nigra	brain
36	chr6:33387600-33388000	Active TSS	HSMM	muscle
37	chr6:33387600-33388200	Active TSS	Psoas Muscle	Psoas
38	chr6:33387600-33388400	Active TSS	Aorta	Aorta
39	chr6:33387600-33388400	Active TSS	Colonic Mucosa	Colon
40	chr6:33387600-33388400	Active TSS	Right Ventricle	heart
41	chr6:33387600-33388600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:33387600-33388600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:33387600-33388600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr6:33387600-33388600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr6:33387600-33388600	Active TSS	Ovary	ovary
46	chr6:33387600-33388800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:33387600-33389000	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr6:33387600-33389000	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:33387600-33389200	Active TSS	H1 Cell Line	embryonic stem cell
50	chr6:33387600-33389200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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