Variant report

Variant	rs73042800
Chromosome Location	chr1:176179102-176179103
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	POLR2A	chr1:176174335-176179842	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:176178997..176181795-chr1:176182441..176184646,3	MCF-7	breast:
2	chr1:176175244..176178958-chr1:176179061..176187498,12	MCF-7	breast:
3	chr1:176178548..176180685-chr1:176189640..176192354,2	K562	blood:

Variant related genes	Relation type
RFWD2	TF binding region
ENSG00000236021	Chromatin interaction
ENSG00000143207	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10158829	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804926	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11806468	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809136	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809835	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239888	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13328721	1.00[EUR][1000 genomes]
rs16849522	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16849645	1.00[EUR][1000 genomes]
rs16849697	0.83[EUR][1000 genomes]
rs16849829	1.00[EUR][1000 genomes]
rs2136545	1.00[EUR][1000 genomes]
rs3845368	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650936	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652141	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652148	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652150	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652151	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652152	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652154	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652155	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652170	1.00[EUR][1000 genomes]
rs4652174	1.00[EUR][1000 genomes]
rs55826684	1.00[EUR][1000 genomes]
rs55969691	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55979360	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56981673	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57395528	0.93[AMR][1000 genomes]
rs58178699	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58305404	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58408024	1.00[EUR][1000 genomes]
rs58743849	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59276566	1.00[EUR][1000 genomes]
rs59373738	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60086820	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61451700	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038827	1.00[AMR][1000 genomes]
rs73038833	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040940	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040951	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042718	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042723	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042728	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042741	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042749	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127189	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127190	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129027	1.00[EUR][1000 genomes]
rs74129030	1.00[EUR][1000 genomes]
rs74129032	1.00[EUR][1000 genomes]
rs74129041	1.00[EUR][1000 genomes]
rs7521561	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7543882	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9792842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176177600-176180200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:176177600-176180200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:176177600-176180200	Weak transcription	Stomach Mucosa	stomach
4	chr1:176177600-176181200	Weak transcription	Psoas Muscle	Psoas
5	chr1:176177600-176198600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:176177800-176180200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:176177800-176180200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:176178000-176180200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:176178000-176180200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:176178200-176179800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:176178200-176180000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:176178200-176180200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:176178200-176189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:176178200-176193800	Weak transcription	Pancreas	Pancrea
15	chr1:176178400-176179800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:176178800-176179200	Enhancers	K562	blood
17	chr1:176179000-176179200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:176179000-176181800	Enhancers	Primary monocytes fromperipheralblood	blood

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