Variant report

Variant	rs177324
Chromosome Location	chr14:37052123-37052124
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	chr14:37051856-37052157	HCT-116	colon:	n/a	n/a
2	CTBP2	chr14:37051980-37054092	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr14:37048394-37054757	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37051690..37053277-chr14:37640298..37642030,2	K562	blood:

Variant related genes	Relation type
RPL29P3	TF binding region
NKX2-8	TF binding region
ENSG00000183032	Chromatin interaction
ENSG00000258708	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10139513	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1014420	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs177321	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs177326	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs177327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1955739	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1955741	0.92[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1955742	0.92[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2415351	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2899852	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3809436	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903782	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60558	0.91[MKK][hapmap];0.88[YRI][hapmap]
rs7142133	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7151025	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7155397	0.92[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7155961	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8005061	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8005633	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][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	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv949612	chr14:36996206-37121633	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv32575	chr14:37047629-37052658	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37048000-37054800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:37049000-37052400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr14:37049600-37052200	Bivalent Enhancer	Fetal Brain Male	brain
4	chr14:37050000-37052200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr14:37050000-37052200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:37050000-37052400	Active TSS	Right Atrium	heart
7	chr14:37050200-37052200	Bivalent/Poised TSS	Psoas Muscle	Psoas
8	chr14:37050400-37052800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr14:37050600-37052200	Active TSS	Brain Substantia Nigra	brain
10	chr14:37050800-37052800	Bivalent Enhancer	Left Ventricle	heart
11	chr14:37050800-37053800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr14:37051000-37052400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:37051400-37052200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
14	chr14:37051600-37052200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr14:37051600-37052400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr14:37051600-37052600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:37051600-37053400	Bivalent Enhancer	Fetal Stomach	stomach
18	chr14:37051800-37052200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:37051800-37052200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:37051800-37052200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:37051800-37052200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
22	chr14:37051800-37052200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr14:37051800-37052200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr14:37051800-37052400	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr14:37051800-37052400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
26	chr14:37051800-37052600	Bivalent/Poised TSS	Right Ventricle	heart
27	chr14:37051800-37052600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
28	chr14:37051800-37052800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:37051800-37052800	Enhancers	Pancreas	Pancrea
30	chr14:37051800-37053000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:37051800-37053000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:37051800-37053200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:37052000-37052200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:37052000-37052200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:37052000-37052200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
36	chr14:37052000-37052200	Bivalent Enhancer	Brain Hippocampus Middle	brain
37	chr14:37052000-37052200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr14:37052000-37052800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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