Variant report

Variant	rs371603821
Chromosome Location	chr6:33387223-33387224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:122)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 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	GATA2	chr6:33387081-33387361	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr6:33384269-33387286	K562	blood:	n/a	n/a
4	JUND	chr6:33385498-33387369	K562	blood:	n/a	chr6:33387272-33387283 chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
5	POLR2A	chr6:33384195-33387279	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr6:33384615-33387295	PBDE	blood:	n/a	n/a
7	ATF2	chr6:33386639-33387227	GM12878	blood:	n/a	chr6:33386980-33386991
8	NFIC	chr6:33385386-33387234	GM12878	blood:	n/a	n/a
9	RUNX3	chr6:33385361-33387367	GM12878	blood:	n/a	n/a
10	TEAD4	chr6:33384207-33387321	K562	blood:	n/a	n/a
11	JUND	chr6:33386575-33387339	GM12878	blood:	n/a	chr6:33387272-33387283 chr6:33386981-33386990 chr6:33386847-33386856
12	MTA3	chr6:33383820-33387438	GM12878	blood:	n/a	n/a
13	CEBPB	chr6:33386673-33387251	GM12878	blood:	n/a	n/a
14	REST	chr6:33387196-33388764	H1-neurons	neurons:	n/a	n/a
15	PML	chr6:33385093-33387286	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33387205-33387255	NH-A	brain:	n/a
2	chr6:33387205-33387255	CMK	blood:	n/a
3	chr6:33387188-33387238	A549	lung:	n/a
4	chr6:33387188-33387238	CMK	blood:	n/a
5	chr6:33387205-33387255	HCF	heart:	n/a
6	chr6:33387188-33387238	SKMC	muscle:	n/a
7	chr6:33387188-33387238	GM12891	blood:	n/a
8	chr6:33387205-33387255	SAEC	small airway:	n/a
9	chr6:33387188-33387238	ECC-1	luminal epithelium:	n/a
10	chr6:33387205-33387255	NB4	blood:	n/a
11	chr6:33387188-33387238	PFSK-1	brain:	n/a
12	chr6:33387205-33387255	Caco-2	colon:	n/a
13	chr6:33387205-33387255	K562	blood:	n/a
14	chr6:33387205-33387255	HUVEC	blood vessel:	n/a
15	chr6:33387205-33387255	ProgFib	skin:	n/a
16	chr6:33387188-33387238	HIPEpiC	eye:	n/a
17	chr6:33387205-33387255	SKMC	muscle:	n/a
18	chr6:33387205-33387255	HMEC	breast:	n/a
19	chr6:33387205-33387255	HCM	heart:	n/a
20	chr6:33387205-33387255	AG09309	skin:	n/a
21	chr6:33387188-33387238	NB4	blood:	n/a
22	chr6:33387188-33387238	NHDF-neo	bronchial:	n/a
23	chr6:33387205-33387255	Jurkat	blood:	n/a
24	chr6:33387188-33387238	ProgFib	skin:	n/a
25	chr6:33387205-33387255	ECC-1	luminal epithelium:	n/a
26	chr6:33387205-33387255	AG09319	gingival:	n/a
27	chr6:33387188-33387238	AG04450	lung:	fetal
28	chr6:33387188-33387238	SK-N-SH_RA	brain:	n/a
29	chr6:33387205-33387255	SK-N-MC	brain:	n/a
30	chr6:33387188-33387238	Jurkat	blood:	n/a
31	chr6:33387188-33387238	K562	blood:	n/a
32	chr6:33387188-33387238	HEEpiC	esophagus:	n/a
33	chr6:33387205-33387255	AG04449	skin:	fetal
34	chr6:33387188-33387238	NH-A	brain:	n/a
35	chr6:33387205-33387255	AG10803	skin:	n/a
36	chr6:33387205-33387255	H1-hESC	embryonic stem cell:	embryo
37	chr6:33387188-33387238	Hepatocyte	liver:	n/a
38	chr6:33387188-33387238	HMEC	breast:	n/a
39	chr6:33387205-33387255	HEEpiC	esophagus:	n/a
40	chr6:33387205-33387255	T-47D	breast:	n/a
41	chr6:33387188-33387238	HRE	kidney:	n/a
42	chr6:33387205-33387255	NHDF-neo	bronchial:	n/a
43	chr6:33387188-33387238	HCT-116	colon:	n/a
44	chr6:33387205-33387255	GM12892	blood:	n/a
45	chr6:33387205-33387255	IMR90	lung:	fetal
46	chr6:33387188-33387238	U87	brain:	n/a
47	chr6:33387188-33387238	BJ	skin:	n/a
48	chr6:33387205-33387255	BE2_C	brain:	n/a
49	chr6:33387205-33387255	AoSMC	blood vessel:	n/a
50	chr6:33387205-33387255	RPTEC	kidney:	n/a

(count:20 , 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	chr6:33264410..33268847-chr6:33383674..33387403,5	MCF-7	breast:
5	chr6:33168527..33171468-chr6:33384494..33387586,3	K562	blood:
6	chr6:33254516..33257651-chr6:33384634..33387572,3	K562	blood:
7	chr6:33365854..33369434-chr6:33385468..33388336,3	K562	blood:
8	chr6:33264378..33268881-chr6:33383627..33388443,14	K562	blood:
9	chr6:33357638..33360083-chr6:33386720..33388943,3	MCF-7	breast:
10	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
11	chr6:33356382..33361019-chr6:33384058..33388661,8	K562	blood:
12	chr6:33384548..33387250-chr6:33422114..33424496,2	K562	blood:
13	chr6:33285422..33287849-chr6:33385883..33388858,2	MCF-7	breast:
14	chr6:33264858..33266557-chr6:33385922..33387524,2	K562	blood:
15	chr6:33237639..33241732-chr6:33383253..33390116,11	K562	blood:
16	chr6:33357335..33362175-chr6:33383352..33389421,14	K562	blood:
17	chr6:33242542..33249529-chr6:33381747..33388277,18	K562	blood:
18	chr6:33279097..33283546-chr6:33386045..33390564,5	MCF-7	breast:
19	chr6:33371627..33375942-chr6:33381284..33387543,6	K562	blood:
20	chr6:33237802..33241730-chr6:33382199..33389112,10	K562	blood:

No data

Variant related genes	Relation type
CUTA	TF binding region
SYNGAP1	TF binding region
SYNGAP1	CpG island
CUTA	CpG island
ENSG00000204220	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000204194	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000223501	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33386000-33387800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:33386000-33392600	Weak transcription	Gastric	stomach
3	chr6:33386200-33387800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:33386200-33387800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:33386200-33387800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:33386200-33387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:33386200-33387800	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr6:33386200-33387800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:33386200-33387800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr6:33386200-33387800	Flanking Active TSS	K562	blood
11	chr6:33386200-33388000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:33386200-33388000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:33386200-33389400	Flanking Active TSS	Dnd41	blood
14	chr6:33386400-33387400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr6:33386400-33387400	Enhancers	Spleen	Spleen
16	chr6:33386400-33387600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:33386400-33387600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:33386400-33387600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr6:33386400-33387800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:33386400-33387800	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr6:33386600-33387400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:33386600-33387400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:33386600-33387400	Enhancers	Primary B cells from peripheral blood	blood
24	chr6:33386600-33387400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:33386600-33387400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:33386600-33387400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:33386600-33387400	Enhancers	Brain Anterior Caudate	brain
28	chr6:33386600-33387400	Enhancers	Placenta	Placenta
29	chr6:33386600-33387400	Enhancers	Fetal Stomach	stomach
30	chr6:33386600-33387400	Enhancers	Fetal Thymus	thymus
31	chr6:33386600-33387400	Enhancers	NH-A	brain
32	chr6:33386600-33387600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:33386600-33387600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:33386600-33387600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:33386600-33387600	Weak transcription	Aorta	Aorta
36	chr6:33386600-33387600	Enhancers	Fetal Intestine Large	intestine
37	chr6:33386600-33387600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr6:33386600-33387600	Enhancers	Fetal Lung	lung
39	chr6:33386600-33387600	Enhancers	Fetal Muscle Trunk	muscle
40	chr6:33386600-33387600	Weak transcription	Ovary	ovary
41	chr6:33386600-33387600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:33386600-33387800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:33386600-33387800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr6:33386600-33387800	Enhancers	Stomach Mucosa	stomach
45	chr6:33386600-33388000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:33386600-33388000	Enhancers	HMEC	breast
47	chr6:33386600-33388400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:33386600-33389200	Enhancers	Fetal Heart	heart
49	chr6:33386800-33387400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr6:33386800-33387400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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