Variant report

Variant	rs55696631
Chromosome Location	chr14:97276005-97276006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97199537..97202098-chr14:97275666..97277302,2	K562	blood:
2	chr14:97270252..97272755-chr14:97275339..97277575,4	K562	blood:
3	chr14:97263901..97269146-chr14:97273376..97277295,5	K562	blood:
4	chr14:97263560..97266144-chr14:97273752..97276345,2	MCF-7	breast:
5	chr14:97274614..97276764-chr14:97277663..97279518,2	K562	blood:
6	chr14:97272734..97276764-chr14:97276840..97280627,4	K562	blood:
7	chr14:97274260..97276872-chr14:97281847..97286316,3	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10131963	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147248	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10400776	0.89[ASN][1000 genomes]
rs17094510	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094552	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094594	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145633	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145634	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657801	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116530	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165690	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225078	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57566539	0.89[ASN][1000 genomes]
rs7148950	1.00[ASN][1000 genomes]
rs7149464	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73355679	0.92[EUR][1000 genomes]
rs7494297	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016074	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323953	0.97[EUR][1000 genomes]
rs9635293	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1052138	chr14:97271794-97322583	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv542180	chr14:97271794-97322583	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1043916	chr14:97275088-97320354	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1051182	chr14:97275088-97337039	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97278400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr14:97264800-97288000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
4	chr14:97265000-97282000	Weak transcription	Fetal Thymus	thymus
5	chr14:97265200-97282200	Weak transcription	Primary T cells from cord blood	blood
6	chr14:97265200-97293200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:97265400-97277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:97265400-97278600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:97265400-97282600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:97265600-97277600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:97265600-97282200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr14:97265600-97282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:97265600-97291800	Weak transcription	A549	lung
14	chr14:97266200-97277600	Weak transcription	NHDF-Ad	bronchial
15	chr14:97266200-97277800	Weak transcription	HSMM	muscle
16	chr14:97266200-97282000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:97266200-97303200	Weak transcription	Hela-S3	cervix
18	chr14:97266800-97282200	Weak transcription	Thymus	Thymus
19	chr14:97270600-97278200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:97270800-97279000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:97271600-97284200	Weak transcription	NHLF	lung
22	chr14:97271600-97313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:97271800-97277600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:97272000-97282200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:97272200-97278400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:97272400-97293800	Weak transcription	Primary B cells from cord blood	blood
27	chr14:97272600-97277200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:97272800-97277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:97272800-97287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:97273000-97287200	Weak transcription	HMEC	breast
31	chr14:97273400-97277600	Weak transcription	NHEK	skin
32	chr14:97273400-97284200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:97273600-97279400	Weak transcription	Dnd41	blood
34	chr14:97274400-97282200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr14:97274600-97276400	Enhancers	K562	blood
36	chr14:97275000-97280800	Weak transcription	Fetal Brain Male	brain
37	chr14:97275400-97277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:97275400-97281800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:97275800-97276400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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