Variant report

Variant	rs33964243
Chromosome Location	chr19:36394272-36394273
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	PAX5	chr19:36394254-36395261	GM12878	blood:	n/a	chr19:36394591-36394600
2	IKZF1	chr19:36394186-36394870	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:36394200-36394898	GM19193	blood:	n/a	n/a
4	POLR2A	chr19:36394142-36394860	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:36394221-36395110	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:36394175-36394879	GM18505	blood:	n/a	n/a
7	POLR2A	chr19:36394191-36394911	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:36394189-36394923	Raji	blood:	n/a	n/a
9	POLR2A	chr19:36394248-36395030	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr19:36393961-36394937	GM12892	blood:	n/a	n/a
11	SPI1	chr19:36394218-36394814	GM12891	blood:	n/a	chr19:36394593-36394600 chr19:36394320-36394329
12	MAX	chr19:36394175-36395070	A549	lung:	n/a	chr19:36394574-36394584
13	STAT1	chr19:36394272-36395074	GM12878	blood:	n/a	chr19:36394591-36394598 chr19:36394390-36394402
14	POLR2A	chr19:36394195-36395243	HL-60	blood:	n/a	n/a
15	E2F6	chr19:36394230-36395062	H1-hESC	embryonic stem cell:	n/a	chr19:36394822-36394832
16	POLR2A	chr19:36394199-36394983	GM12878	blood:	n/a	n/a
17	RELA	chr19:36394219-36395171	GM12891	blood:	n/a	n/a
18	POLR2A	chr19:36394084-36394897	GM12878	blood:	n/a	n/a
19	MAZ	chr19:36394128-36395225	IMR90	lung:	n/a	chr19:36394574-36394584
20	MTA3	chr19:36394039-36395287	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:36392633-36395066	GM12891	blood:	n/a	n/a
22	SPI1	chr19:36394153-36395022	GM12878	blood:	n/a	chr19:36394593-36394600 chr19:36394320-36394329
23	POLR2A	chr19:36392517-36395149	GM12878	blood:	n/a	n/a
24	ELF1	chr19:36394231-36395160	GM12878	blood:	n/a	n/a
25	PML	chr19:36394176-36395116	GM12878	blood:	n/a	chr19:36395000-36395008
26	SPI1	chr19:36394106-36395047	GM12878	blood:	n/a	chr19:36394593-36394600 chr19:36394320-36394329
27	SPI1	chr19:36394227-36394991	HL-60	blood:	n/a	chr19:36394593-36394600 chr19:36394320-36394329
28	POLR2A	chr19:36394165-36395173	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:36394245-36394898	K562	blood:	n/a	n/a
30	POLR2A	chr19:36394119-36395997	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36387478..36389349-chr19:36394132..36396571,2	MCF-7	breast:
2	chr19:36359598..36361922-chr19:36393124..36395167,2	K562	blood:
3	chr19:36389776..36392991-chr19:36393581..36401271,10	K562	blood:
4	chr19:36205479..36207948-chr19:36393989..36396293,2	K562	blood:
5	chr19:36393311..36395845-chr19:36427548..36429396,2	MCF-7	breast:
6	chr19:36393181..36395162-chr19:36544398..36547293,2	K562	blood:
7	chr19:36390133..36392611-chr19:36392789..36396319,5	MCF-7	breast:

Variant related genes	Relation type
NFKBID	TF binding region
ENSG00000105290	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000161270	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000126243	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11878547	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960862	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17173033	0.83[ASN][1000 genomes]
rs1802029	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230260	0.83[ASN][1000 genomes]
rs376240	0.83[ASN][1000 genomes]
rs56264349	0.83[ASN][1000 genomes]
rs58422001	0.91[ASN][1000 genomes]
rs7251744	0.90[ASN][1000 genomes]
rs7251879	0.91[ASN][1000 genomes]
rs7252902	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7253040	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253826	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254113	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258154	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258214	0.90[ASN][1000 genomes]
rs7258909	0.90[ASN][1000 genomes]
rs8105153	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106480	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106495	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108360	1.00[ASN][1000 genomes]
rs8108459	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110231	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8111740	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113524	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8113704	0.88[ASN][1000 genomes]
rs879407	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36390800-36395400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:36391000-36395000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr19:36391600-36394400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:36391600-36394400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:36391600-36394400	Weak transcription	Gastric	stomach
6	chr19:36391600-36394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:36391600-36394400	Enhancers	HMEC	breast
8	chr19:36391600-36394600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr19:36391600-36395000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:36391600-36395000	Flanking Active TSS	Fetal Thymus	thymus
11	chr19:36391600-36395000	Enhancers	Spleen	Spleen
12	chr19:36391600-36397400	Weak transcription	Stomach Mucosa	stomach
13	chr19:36391800-36394400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:36391800-36395000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr19:36391800-36395000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:36391800-36395200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr19:36391800-36395200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr19:36391800-36395200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr19:36391800-36395200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr19:36391800-36395200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr19:36391800-36396000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr19:36391800-36396000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:36391800-36396400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr19:36392000-36394400	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr19:36392000-36394400	Enhancers	NH-A	brain
26	chr19:36392000-36394400	Enhancers	NHLF	lung
27	chr19:36392000-36394800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:36392000-36394800	Enhancers	NHDF-Ad	bronchial
29	chr19:36392000-36395200	Flanking Active TSS	GM12878-XiMat	blood
30	chr19:36392000-36398000	Weak transcription	Brain Angular Gyrus	brain
31	chr19:36392200-36397400	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:36392200-36398600	Weak transcription	Right Atrium	heart
33	chr19:36392400-36394400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:36392400-36394400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:36392600-36394600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:36392600-36394800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:36392600-36394800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:36392600-36395000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:36392800-36394600	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr19:36392800-36394600	Active TSS	Colonic Mucosa	Colon
41	chr19:36392800-36394800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr19:36392800-36394800	Active TSS	Rectal Smooth Muscle	rectum
43	chr19:36393000-36394400	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr19:36393000-36394400	Enhancers	HSMM	muscle
45	chr19:36393000-36394600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:36393000-36394600	Active TSS	Liver	Liver
47	chr19:36393200-36394600	Active TSS	Esophagus	oesophagus
48	chr19:36393200-36394600	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr19:36393200-36395000	Enhancers	Lung	lung
50	chr19:36393400-36394400	Active TSS	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links