Variant report

Variant	rs61737797
Chromosome Location	chr1:228285645-228285646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228284520..228292111-chr1:228324853..228335412,14	K562	blood:
2	chr1:228283995..228287162-chr1:228352238..228356052,3	K562	blood:
3	chr1:228285041..228287250-chr1:228378476..228381097,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203684	Chromatin interaction
ENSG00000143774	Chromatin interaction
ENSG00000181873	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs15109	0.90[ASN][1000 genomes]
rs16848270	1.00[ASN][1000 genomes]
rs55686465	1.00[ASN][1000 genomes]
rs55904630	0.90[ASN][1000 genomes]
rs55923168	1.00[ASN][1000 genomes]
rs55954688	1.00[AFR][1000 genomes]
rs56003736	1.00[ASN][1000 genomes]
rs56029925	1.00[ASN][1000 genomes]
rs56080014	0.90[ASN][1000 genomes]
rs56226852	1.00[AFR][1000 genomes]
rs56285667	0.90[ASN][1000 genomes]
rs56377909	0.90[ASN][1000 genomes]
rs56831205	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57446195	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57450243	1.00[AFR][1000 genomes]
rs58035269	1.00[AFR][1000 genomes]
rs58045861	0.90[ASN][1000 genomes]
rs59478442	0.90[ASN][1000 genomes]
rs60245137	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61230585	1.00[ASN][1000 genomes]
rs61401568	0.90[ASN][1000 genomes]
rs74140907	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140910	1.00[ASN][1000 genomes]
rs74140912	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140914	1.00[AFR][1000 genomes]
rs74140915	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140916	1.00[ASN][1000 genomes]
rs74140918	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140919	1.00[ASN][1000 genomes]
rs74140923	1.00[ASN][1000 genomes]
rs74140924	1.00[AFR][1000 genomes]
rs74140925	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140953	1.00[ASN][1000 genomes]
rs74140954	1.00[ASN][1000 genomes]
rs74140955	1.00[ASN][1000 genomes]
rs74140956	1.00[ASN][1000 genomes]
rs74140957	1.00[ASN][1000 genomes]
rs74140960	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140961	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140963	1.00[ASN][1000 genomes]
rs74140965	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140967	1.00[ASN][1000 genomes]
rs74140969	0.90[ASN][1000 genomes]
rs74140970	0.90[ASN][1000 genomes]
rs74140973	0.90[ASN][1000 genomes]
rs74140976	0.90[ASN][1000 genomes]
rs74140978	0.90[ASN][1000 genomes]
rs74140980	0.90[ASN][1000 genomes]
rs74140989	0.90[ASN][1000 genomes]
rs74140994	0.90[ASN][1000 genomes]
rs74140996	0.90[ASN][1000 genomes]
rs74141002	0.90[ASN][1000 genomes]
rs74142606	0.90[ASN][1000 genomes]
rs74142608	0.90[ASN][1000 genomes]
rs74142625	0.90[ASN][1000 genomes]
rs74142627	0.90[ASN][1000 genomes]
rs74142642	0.90[ASN][1000 genomes]
rs74142644	0.90[ASN][1000 genomes]
rs74142645	0.90[ASN][1000 genomes]
rs74142647	0.90[ASN][1000 genomes]
rs74143623	1.00[AFR][1000 genomes]
rs74143631	1.00[ASN][1000 genomes]
rs74143632	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74143634	1.00[ASN][1000 genomes]
rs74143635	1.00[ASN][1000 genomes]
rs74143636	1.00[ASN][1000 genomes]
rs74143637	1.00[ASN][1000 genomes]
rs74143638	1.00[ASN][1000 genomes]
rs74143640	1.00[ASN][1000 genomes]
rs74143641	1.00[ASN][1000 genomes]
rs74143642	1.00[ASN][1000 genomes]
rs74143662	1.00[ASN][1000 genomes]
rs74143663	1.00[AFR][1000 genomes]
rs74143665	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74143667	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs752108	1.00[ASN][1000 genomes]
rs752109	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
10	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
11	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228275800-228286600	Weak transcription	Fetal Kidney	kidney
2	chr1:228276800-228290200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:228277200-228290000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:228277600-228289200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:228278000-228289400	Genic enhancers	Pancreas	Pancrea
6	chr1:228279200-228287800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:228279600-228289000	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr1:228280200-228288800	Weak transcription	Fetal Heart	heart
9	chr1:228280600-228286400	Weak transcription	Psoas Muscle	Psoas
10	chr1:228280800-228289600	Weak transcription	Small Intestine	intestine
11	chr1:228281400-228289000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:228282400-228289200	Strong transcription	NHEK	skin
13	chr1:228282600-228286400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:228282600-228287200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:228282600-228288800	Strong transcription	K562	blood
16	chr1:228282600-228289000	Strong transcription	Primary T cells from cord blood	blood
17	chr1:228282800-228287400	Strong transcription	GM12878-XiMat	blood
18	chr1:228282800-228287800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:228282800-228288000	Strong transcription	Brain Substantia Nigra	brain
20	chr1:228282800-228289000	Strong transcription	Fetal Lung	lung
21	chr1:228282800-228289200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:228282800-228289200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:228283000-228288800	Strong transcription	Dnd41	blood
24	chr1:228283000-228289000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:228283000-228289000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:228283000-228289200	Strong transcription	Brain Anterior Caudate	brain
27	chr1:228283200-228288600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:228283200-228288600	Strong transcription	Fetal Intestine Large	intestine
29	chr1:228283200-228288800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:228283200-228289200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:228283200-228289200	Genic enhancers	Gastric	stomach
32	chr1:228283400-228288000	Strong transcription	A549	lung
33	chr1:228283400-228288600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:228283400-228288600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr1:228283400-228288800	Strong transcription	NHLF	lung
36	chr1:228283400-228289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:228283400-228289200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:228283400-228289400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:228283400-228289400	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:228283600-228286400	Genic enhancers	Spleen	Spleen
41	chr1:228283600-228288400	Strong transcription	Primary B cells from cord blood	blood
42	chr1:228283600-228288400	Strong transcription	HepG2	liver
43	chr1:228283600-228288800	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr1:228283600-228289000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:228283600-228289000	Strong transcription	Fetal Intestine Small	intestine
46	chr1:228283600-228289200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:228283600-228289200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:228283600-228289200	Strong transcription	Thymus	Thymus
49	chr1:228283800-228285800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:228283800-228286400	Genic enhancers	Fetal Muscle Leg	muscle

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