Variant report

Variant	rs67567469
Chromosome Location	chr1:149818561-149818562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr1:149818175-149818799	K562	blood:	n/a	n/a
2	POLR2A	chr1:149814988-149821817	K562	blood:	n/a	n/a
3	POLR2A	chr1:149818426-149819090	K562	blood:	n/a	n/a
4	POLR2A	chr1:149818258-149818974	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:149818511-149819052	MCF-7	breast:	n/a	n/a
6	BCL3	chr1:149818136-149819031	A549	lung:	n/a	n/a
7	POLR2A	chr1:149818447-149819624	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPD	chr1:149818428-149819091	K562	blood:	n/a	n/a
9	POLR2A	chr1:149814991-149821919	K562	blood:	n/a	n/a
10	POLR2A	chr1:149818468-149819067	HCT-116	colon:	n/a	n/a
11	POLR2A	chr1:149818525-149819223	Hela-S3	cervix:	n/a	n/a
12	MAFK	chr1:149818177-149818593	K562	blood:	n/a	chr1:149818358-149818373
13	HEY1	chr1:149818459-149819637	K562	blood:	n/a	n/a
14	POLR2A	chr1:149818214-149836490	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCLAF1	chr1:149817611-149818818	K562	blood:	n/a	n/a
16	CCNT2	chr1:149818541-149818944	K562	blood:	n/a	n/a
17	POLR2A	chr1:149814975-149819632	K562	blood:	n/a	n/a
18	POLR2A	chr1:149818124-149821883	Hela-S3	cervix:	n/a	n/a
19	MAFF	chr1:149818180-149818765	K562	blood:	n/a	chr1:149818356-149818374
20	POLR2A	chr1:149818388-149818916	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr1:149818364-149819008	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:149815719..149822339-chr1:149907112..149913890,13	MCF-7	breast:
2	chr1:149813687..149823244-chr1:149851297..149861525,76	MCF-7	breast:
3	chr1:149818120..149820568-chr1:150252818..150255293,3	MCF-7	breast:
4	chr1:149813928..149823076-chr1:149854513..149862208,33	K562	blood:
5	chr1:149780184..149786348-chr1:149813638..149819174,10	MCF-7	breast:
6	chr1:149814002..149823234-chr1:149906555..149912579,18	MCF-7	breast:
7	chr1:149813697..149823354-chr1:149851773..149862006,115	MCF-7	breast:
8	chr1:149817827..149821431-chr1:150036446..150041414,4	K562	blood:
9	chr1:149818397..149820490-chr17:59879716..59882504,2	MCF-7	breast:
10	chr1:149813771..149823366-chr1:149853740..149862208,36	K562	blood:
11	chr1:149817384..149819786-chr20:62610285..62612277,2	MCF-7	breast:
12	chr1:149813582..149820276-chr1:149898052..149903861,9	MCF-7	breast:
13	chr1:149816826..149819259-chr8:99056422..99059164,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST2H2AA3-1	chr1:149816065-149820591	ENSG00000261716.1

No data

Variant related genes	Relation type
HIST2H2AA3	TF binding region
HIST2H2AA4	TF binding region
ENSG00000159208	Chromatin interaction
ENSG00000242663	Chromatin interaction
ENSG00000203814	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000183598	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000156482	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000130590	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11205037	1.00[ASN][1000 genomes]
rs1260246	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41265172	1.00[ASN][1000 genomes]
rs55909843	1.00[ASN][1000 genomes]
rs59420759	1.00[ASN][1000 genomes]
rs72708144	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531664	1.00[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	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	esv1806395	chr1:149015282-149849940	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	425 gene(s)	inside rSNPs	diseases
3	esv1831586	chr1:149036382-149849940	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	425 gene(s)	inside rSNPs	diseases
4	nsv831503	chr1:149640643-149820841	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription 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 target site	56 gene(s)	inside rSNPs	diseases
5	nsv469694	chr1:149688852-149836280	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482790	chr1:149688852-149836280	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv831525	chr1:149701537-149878033	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 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	chr1:149815400-149820400	Weak transcription	Gastric	stomach
2	chr1:149815400-149821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:149815400-149821600	Weak transcription	Lung	lung
4	chr1:149815600-149819200	Weak transcription	Colonic Mucosa	Colon
5	chr1:149815600-149820000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:149815600-149820000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:149815600-149820200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:149815600-149820400	Weak transcription	Psoas Muscle	Psoas
9	chr1:149815600-149821000	Weak transcription	Left Ventricle	heart
10	chr1:149815600-149821600	Weak transcription	Esophagus	oesophagus
11	chr1:149815800-149819000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:149815800-149820000	Weak transcription	HSMMtube	muscle
13	chr1:149815800-149820600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:149815800-149820800	Weak transcription	Right Atrium	heart
15	chr1:149816000-149820000	Weak transcription	Fetal Brain Female	brain
16	chr1:149816000-149820000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:149816000-149820200	Weak transcription	Adipose Nuclei	Adipose
18	chr1:149816000-149820400	Weak transcription	Right Ventricle	heart
19	chr1:149816200-149818600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:149816400-149819000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:149816400-149820000	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr1:149816400-149821200	Transcr. at gene 5' and 3'	K562	blood
23	chr1:149816600-149818600	Weak transcription	HSMM	muscle
24	chr1:149816600-149820000	Enhancers	HepG2	liver
25	chr1:149816800-149819000	Strong transcription	Placenta	Placenta
26	chr1:149816800-149819800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:149816800-149819800	Weak transcription	HUVEC	blood vessel
28	chr1:149816800-149820000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:149816800-149820000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:149816800-149820000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:149816800-149820000	Weak transcription	Fetal Brain Male	brain
32	chr1:149817000-149818800	Genic enhancers	Liver	Liver
33	chr1:149817000-149819000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
34	chr1:149817000-149819000	Genic enhancers	Monocytes-CD14+_RO01746	blood
35	chr1:149817000-149819400	Genic enhancers	Primary hematopoietic stem cells	blood
36	chr1:149817000-149819800	Weak transcription	Osteobl	bone
37	chr1:149817200-149819000	Enhancers	Fetal Intestine Small	intestine
38	chr1:149817200-149819400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:149817200-149819400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:149817200-149819400	Weak transcription	Small Intestine	intestine
41	chr1:149817200-149819800	Weak transcription	Fetal Kidney	kidney
42	chr1:149817200-149820000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:149817200-149820000	Weak transcription	NH-A	brain
44	chr1:149817200-149820600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:149817200-149820800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:149817400-149818600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:149817400-149818600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:149817400-149818600	Genic enhancers	Dnd41	blood
49	chr1:149817400-149818800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:149817400-149818800	Weak transcription	Pancreas	Pancrea

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