Variant report

Variant	rs3213312
Chromosome Location	chr19:44067023-44067024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr19:44066585-44067274	GM12878	blood:	n/a	n/a
2	RUNX3	chr19:44066656-44067392	GM12878	blood:	n/a	n/a
3	SPI1	chr19:44066828-44067254	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:44066659-44067412	U87	brain:	n/a	n/a
5	FOXP2	chr19:44066787-44067349	PFSK-1	brain:	n/a	n/a
6	NFATC1	chr19:44066730-44067195	GM12878	blood:	n/a	n/a
7	E2F4	chr19:44066925-44067080	MCF10A-Er-Src	breast:	n/a	n/a
8	POU2F2	chr19:44066697-44067197	GM12878	blood:	n/a	n/a
9	SPI1	chr19:44066808-44067379	HL-60	blood:	n/a	n/a
10	STAT3	chr19:44066862-44067220	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr19:44066335-44067427	HL-60	blood:	n/a	n/a
12	TCF12	chr19:44066948-44067234	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:44066339-44067427	HL-60	blood:	n/a	n/a
14	BCLAF1	chr19:44066652-44067305	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:44066659-44067394	U87	brain:	n/a	n/a
16	TCF12	chr19:44066986-44067255	GM12878	blood:	n/a	n/a
17	FOS	chr19:44066760-44067162	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXM1	chr19:44066628-44067193	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:44066766-44067320	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr19:44066780-44067177	GM12878	blood:	n/a	n/a
21	FOS	chr19:44066693-44067231	MCF10A-Er-Src	breast:	n/a	n/a
22	EBF1	chr19:44066925-44067263	GM12878	blood:	n/a	n/a
23	SP1	chr19:44066702-44067232	GM12878	blood:	n/a	n/a
24	CEBPB	chr19:44066858-44067270	IMR90	lung:	n/a	n/a
25	FOS	chr19:44066681-44067227	MCF10A-Er-Src	breast:	n/a	n/a
26	MAX	chr19:44066566-44067428	NB4	blood:	n/a	n/a
27	STAT3	chr19:44066813-44067201	MCF10A-Er-Src	breast:	n/a	n/a
28	TCF3	chr19:44066925-44067222	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:44066858-44067217	PFSK-1	brain:	n/a	n/a
30	BATF	chr19:44066704-44067029	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:44066633-44067349	U87	brain:	n/a	n/a
32	MEF2A	chr19:44066779-44067369	GM12878	blood:	n/a	n/a
33	PML	chr19:44066813-44067396	GM12878	blood:	n/a	n/a
34	MTA3	chr19:44066362-44067421	GM12878	blood:	n/a	n/a
35	ATF2	chr19:44066699-44067260	GM12878	blood:	n/a	n/a
36	ZNF384	chr19:44066713-44067118	GM12878	blood:	n/a	n/a
37	RCOR1	chr19:44066360-44067438	IMR90	lung:	n/a	n/a
38	EBF1	chr19:44066784-44067309	GM12878	blood:	n/a	n/a
39	MEF2C	chr19:44066719-44067367	GM12878	blood:	n/a	n/a
40	MTA3	chr19:44066745-44067356	GM12878	blood:	n/a	n/a
41	GATA1	chr19:44066710-44067392	PBDE	blood:	n/a	n/a
42	FOXP2	chr19:44067014-44067387	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr19:44066891-44067376	HUVEC	blood vessel:	n/a	n/a
44	ELF1	chr19:44066991-44067417	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:44066948-44067221	HUVEC	blood vessel:	n/a	n/a
46	SP1	chr19:44066789-44067290	GM12878	blood:	n/a	chr19:44067276-44067290
47	POLR2A	chr19:44066921-44067410	GM12878	blood:	n/a	n/a
48	MYC	chr19:44066996-44067270	MCF10A-Er-Src	breast:	n/a	n/a
49	NFATC1	chr19:44066747-44067306	GM12878	blood:	n/a	n/a
50	MYC	chr19:44066952-44067280	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:44065179..44067890-chr19:44122794..44124973,2	K562	blood:
2	chr19:44063536..44067996-chr19:44097389..44100718,5	MCF-7	breast:
3	chr19:44065444..44067870-chr19:44076256..44078138,2	MCF-7	breast:

No data

Variant related genes	Relation type
XRCC1	TF binding region
ENSG00000167378	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000124444	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11666646	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1056785	chr19:44010370-44081601	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1063149	chr19:44059081-44087583	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44039200-44078600	Weak transcription	Hela-S3	cervix
2	chr19:44043800-44074000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:44044600-44069000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:44048400-44078800	Weak transcription	Small Intestine	intestine
5	chr19:44052800-44068400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:44053400-44068800	Strong transcription	Fetal Intestine Small	intestine
7	chr19:44053400-44069400	Strong transcription	Fetal Stomach	stomach
8	chr19:44053600-44068600	Strong transcription	Fetal Intestine Large	intestine
9	chr19:44057600-44071200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:44057800-44078800	Weak transcription	HSMMtube	muscle
11	chr19:44058400-44071400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:44058600-44078800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:44059000-44076000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:44059200-44078800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:44059800-44078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:44061800-44069000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:44062400-44067400	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:44062400-44067400	Strong transcription	Fetal Brain Female	brain
19	chr19:44062600-44076000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:44063400-44067400	Strong transcription	Brain Germinal Matrix	brain
21	chr19:44063400-44076200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:44063600-44069200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:44063800-44067200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:44063800-44067200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:44063800-44068600	Strong transcription	Fetal Lung	lung
26	chr19:44063800-44069200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:44064600-44068800	Strong transcription	HepG2	liver
28	chr19:44064800-44068000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:44064800-44068600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:44064800-44069600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:44065000-44067200	Strong transcription	Fetal Kidney	kidney
32	chr19:44065000-44067800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:44065000-44068800	Enhancers	Primary hematopoietic stem cells	blood
34	chr19:44065200-44067200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:44065200-44068400	Strong transcription	A549	lung
36	chr19:44065200-44068600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:44065200-44078600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:44065400-44069400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:44065400-44069600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:44065400-44078600	Weak transcription	Ovary	ovary
41	chr19:44065400-44078800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:44065400-44078800	Weak transcription	Aorta	Aorta
43	chr19:44065600-44067600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr19:44065600-44068600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr19:44065800-44067400	Enhancers	Fetal Heart	heart
46	chr19:44065800-44068000	Genic enhancers	Adipose Nuclei	Adipose
47	chr19:44065800-44068000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:44065800-44078600	Weak transcription	HSMM	muscle
49	chr19:44066000-44067200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr19:44066000-44067400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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