Variant report

Variant	rs61622691
Chromosome Location	chr14:31528819-31528820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31520948..31523210-chr14:31526631..31529023,2	K562	blood:
2	chr14:31507963..31510903-chr14:31527349..31529019,3	K562	blood:
3	chr14:31528189..31530334-chr14:31549926..31552268,2	K562	blood:
4	chr14:31493363..31498138-chr14:31527372..31532958,10	K562	blood:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction
ENSG00000196792	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58023664	1.00[AMR][1000 genomes]
rs58939187	0.86[AFR][1000 genomes]
rs59788315	1.00[AMR][1000 genomes]
rs59860266	1.00[AMR][1000 genomes]
rs73252171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252194	1.00[AMR][1000 genomes]
rs73252199	1.00[AMR][1000 genomes]
rs73253818	1.00[AMR][1000 genomes]
rs73253821	1.00[AMR][1000 genomes]
rs73257773	1.00[AMR][1000 genomes]
rs73257782	1.00[AMR][1000 genomes]
rs73257784	1.00[AMR][1000 genomes]
rs73257785	1.00[AMR][1000 genomes]
rs73257788	1.00[AMR][1000 genomes]
rs73257794	1.00[AMR][1000 genomes]
rs73257797	1.00[AMR][1000 genomes]
rs73259613	1.00[AMR][1000 genomes]
rs9944096	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv3390402	chr14:31528301-31530399	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
2	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:31501200-31544200	Weak transcription	Primary B cells from cord blood	blood
4	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:31507000-31537600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr14:31507200-31539200	Weak transcription	Fetal Stomach	stomach
7	chr14:31507800-31549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:31508000-31538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:31508200-31537600	Weak transcription	Primary T cells from cord blood	blood
10	chr14:31517200-31529400	Weak transcription	Right Ventricle	heart
11	chr14:31522800-31552800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:31522800-31553600	Weak transcription	Lung	lung
13	chr14:31523000-31529000	Weak transcription	Ovary	ovary
14	chr14:31525000-31535400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:31525800-31530000	Enhancers	Hela-S3	cervix
16	chr14:31526000-31530000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:31526000-31530200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:31526400-31530000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr14:31526400-31530000	Enhancers	HSMMtube	muscle
20	chr14:31526400-31530800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:31527200-31529600	Enhancers	HepG2	liver
22	chr14:31527200-31530000	Enhancers	Fetal Intestine Large	intestine
23	chr14:31527400-31529800	Enhancers	HSMM	muscle
24	chr14:31527400-31530000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:31527400-31530800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:31527600-31530000	Enhancers	Fetal Intestine Small	intestine
27	chr14:31527800-31529000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr14:31527800-31529800	Enhancers	A549	lung
29	chr14:31527800-31530000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:31527800-31530000	Enhancers	Placenta	Placenta
31	chr14:31527800-31530200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr14:31527800-31531200	Enhancers	Psoas Muscle	Psoas
33	chr14:31527800-31537800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:31528000-31529000	Flanking Active TSS	K562	blood
35	chr14:31528000-31529400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:31528000-31529400	Weak transcription	Esophagus	oesophagus
37	chr14:31528000-31529600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr14:31528000-31529600	Enhancers	NHLF	lung
39	chr14:31528000-31529600	Enhancers	Osteobl	bone
40	chr14:31528000-31529800	Enhancers	NH-A	brain
41	chr14:31528000-31530000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr14:31528000-31530000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr14:31528000-31530000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:31528000-31530000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr14:31528000-31530000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:31528000-31530000	Enhancers	Stomach Mucosa	stomach
47	chr14:31528000-31530200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr14:31528000-31544000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:31528200-31529200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:31528200-31529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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