Variant report

Variant	rs2844483
Chromosome Location	chr6:31536796-31536797
allele	A/C
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	POU2F2	chr6:31536263-31536809	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:31536209-31537119	GM12892	blood:	n/a	n/a
3	NFIC	chr6:31534993-31536868	GM12878	blood:	n/a	n/a
4	NFIC	chr6:31536166-31536879	GM12878	blood:	n/a	n/a
5	IKZF1	chr6:31535488-31536816	GM12878	blood:	n/a	n/a
6	POU2F2	chr6:31536281-31537053	GM12891	blood:	n/a	n/a
7	CEBPB	chr6:31536078-31536810	GM12878	blood:	n/a	n/a
8	SPI1	chr6:31536135-31536966	GM12878	blood:	n/a	chr6:31536703-31536710 chr6:31536632-31536639
9	PML	chr6:31536042-31536835	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:31535308-31536810	GM12891	blood:	n/a	n/a
11	MTA3	chr6:31535085-31537245	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:31536344-31536805	GM12892	blood:	n/a	n/a
13	BHLHE40	chr6:31535870-31536851	GM12878	blood:	n/a	chr6:31536595-31536604
14	SPI1	chr6:31536443-31536802	GM12891	blood:	n/a	chr6:31536703-31536710 chr6:31536632-31536639
15	ATF2	chr6:31536186-31536827	GM12878	blood:	n/a	n/a
16	RUNX3	chr6:31535108-31536854	GM12878	blood:	n/a	n/a
17	STAT5A	chr6:31535713-31536816	GM12878	blood:	n/a	n/a
18	FOXM1	chr6:31535781-31536802	GM12878	blood:	n/a	n/a
19	NFATC1	chr6:31535231-31536837	GM12878	blood:	n/a	n/a
20	SPI1	chr6:31536353-31536844	HL-60	blood:	n/a	chr6:31536703-31536710 chr6:31536632-31536639

No.	Distal block	Cell Line	Cell type
1	chr6:31536235..31538770-chr6:31587969..31589946,2	K562	blood:
2	chr6:31509413..31513177-chr6:31535184..31538614,4	K562	blood:
3	chr6:31526758..31532788-chr6:31533564..31537563,8	K562	blood:
4	chr6:31526758..31530982-chr6:31533053..31538001,9	K562	blood:
5	chr6:31534021..31537135-chr6:31540492..31546110,5	K562	blood:

Variant related genes	Relation type
LTA	TF binding region
ENSG00000204469	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000232810	Chromatin interaction
ENSG00000234006	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1121800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071590	0.80[AMR][1000 genomes]
rs2239704	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2516390	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2516391	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2516479	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2523500	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2844484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844485	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844486	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2857602	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2857710	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3094595	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3135042	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3135043	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs746868	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
4	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
5	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
6	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
7	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
8	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
9	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
10	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
11	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
12	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
13	esv2757162	chr6:31353329-31542308	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
14	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
15	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
16	nsv470809	chr6:31496915-31544189	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
17	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
18	nsv462870	chr6:31528130-31544189	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
19	nsv601941	chr6:31528130-31544189	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2844483	XXbac-BPG248L24.12	cis	Whole Blood	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31528600-31541200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:31529000-31541200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:31529400-31539800	Weak transcription	Thymus	Thymus
4	chr6:31532000-31539800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:31533000-31539200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:31533600-31539400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr6:31533800-31539400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:31534000-31537600	Enhancers	Primary B cells from peripheral blood	blood
9	chr6:31534000-31539400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr6:31534400-31539400	Enhancers	Primary B cells from cord blood	blood
11	chr6:31534600-31539200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr6:31534800-31539400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr6:31534800-31539400	Enhancers	Fetal Thymus	thymus
14	chr6:31535000-31538000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:31535200-31537000	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr6:31535200-31537400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:31535400-31537800	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:31535600-31537400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr6:31535800-31537000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:31535800-31541200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:31536000-31536800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:31536000-31536800	Enhancers	Duodenum Mucosa	Duodenum
23	chr6:31536000-31540000	Weak transcription	Esophagus	oesophagus
24	chr6:31536000-31546200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:31536000-31548400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:31536200-31537600	Weak transcription	HSMMtube	muscle
27	chr6:31536200-31538200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr6:31536200-31541400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:31536400-31537400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:31536400-31537600	Enhancers	GM12878-XiMat	blood
31	chr6:31536400-31538600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:31536400-31539200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:31536400-31539200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr6:31536400-31541200	Weak transcription	Spleen	Spleen
35	chr6:31536600-31536800	Enhancers	Dnd41	blood
36	chr6:31536600-31537600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr6:31536600-31538200	Weak transcription	Right Atrium	heart
38	chr6:31536600-31539200	Enhancers	Primary T cells from cord blood	blood
39	chr6:31536600-31539200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr6:31536600-31539200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr6:31536600-31544200	Weak transcription	K562	blood

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