Variant report

Variant	rs34636594
Chromosome Location	chr2:172911094-172911095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172910103..172911798-chr2:172947544..172950259,2	MCF-7	breast:
2	chr2:172909513..172911907-chr2:172948039..172950967,2	MCF-7	breast:
3	chr2:172909379..172916271-chr2:172947539..172952263,13	K562	blood:
4	chr2:172894190..172896473-chr2:172910929..172913288,2	K562	blood:
5	chr2:172897089..172900010-chr2:172909839..172912586,2	K562	blood:
6	chr2:172910524..172912386-chr2:172915560..172917116,2	K562	blood:
7	chr2:172908370..172912601-chr2:172912982..172915334,3	K562	blood:
8	chr2:172909670..172912609-chr2:172916665..172919120,2	MCF-7	breast:
9	chr2:172909159..172912131-chr2:172917033..172919851,3	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 11 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10497378	0.81[AFR][1000 genomes]
rs7594711	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv875412	chr2:172903124-172942448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3447436	chr2:172905006-172911904	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3442591	chr2:172905556-172911754	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1004708	chr2:172906089-172911234	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3406442	chr2:172907706-172911904	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv583629	chr2:172907898-172914293	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs34636594	AC068039.4	cis	Thyroid	GTEx
rs34636594	AC068039.4	cis	Esophagus Mucosa	GTEx
rs34636594	AC068039.4	cis	Stomach	GTEx
rs34636594	AC068039.4	cis	Muscle Skeletal	GTEx
rs34636594	SLC25A12	Cis_1M	lymphoblastoid	RTeQTL
rs34636594	AC068039.4	cis	Adipose Subcutaneous	GTEx
rs34636594	AC068039.4	cis	Esophagus Muscularis	GTEx
rs34636594	AC068039.4	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172907800-172916000	Weak transcription	Fetal Kidney	kidney
2	chr2:172910600-172911400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:172910600-172911400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:172910600-172911400	Enhancers	Dnd41	blood
5	chr2:172910800-172911200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:172910800-172911200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:172910800-172911200	Enhancers	HSMM	muscle
8	chr2:172910800-172911400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:172910800-172911400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:172910800-172911400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:172910800-172911400	Enhancers	K562	blood
12	chr2:172911000-172912200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:172911000-172930000	Weak transcription	Primary T cells from cord blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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