Variant report

Variant	rs17022330
Chromosome Location	chr2:99802662-99802663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99796817..99802176-chr2:99802213..99807656,6	MCF-7	breast:
2	chr2:99800478..99805908-chr2:99949969..99953911,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158417	Chromatin interaction
ENSG00000115514	Chromatin interaction
ENSG00000241962	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000185414	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55958303	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56349801	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56379415	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57765663	1.00[AMR][1000 genomes]
rs73965243	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv961842	chr2:99781138-99886836	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17022330	ABP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99798400-99803600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:99798400-99803600	Weak transcription	Left Ventricle	heart
3	chr2:99798400-99807200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:99798400-99812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:99798600-99803000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:99798600-99803400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:99798600-99803400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:99798600-99803400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:99798600-99804600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:99798600-99805400	Weak transcription	Psoas Muscle	Psoas
11	chr2:99798600-99805600	Weak transcription	Brain Anterior Caudate	brain
12	chr2:99798600-99808000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:99798600-99808200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:99798600-99812000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:99798600-99812000	Weak transcription	Aorta	Aorta
16	chr2:99798600-99814000	Weak transcription	Right Ventricle	heart
17	chr2:99798600-99814800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:99798600-99815200	Weak transcription	Esophagus	oesophagus
19	chr2:99798600-99822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:99798600-99836400	Weak transcription	Small Intestine	intestine
21	chr2:99798800-99802800	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:99798800-99803000	Weak transcription	HSMMtube	muscle
23	chr2:99798800-99803400	Weak transcription	Primary B cells from cord blood	blood
24	chr2:99798800-99803400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:99798800-99803400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:99798800-99803400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:99798800-99803400	Weak transcription	Spleen	Spleen
28	chr2:99798800-99803600	Weak transcription	Fetal Intestine Small	intestine
29	chr2:99798800-99804400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:99798800-99804800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:99798800-99805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:99798800-99805400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:99798800-99805600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:99798800-99805600	Weak transcription	Brain Substantia Nigra	brain
35	chr2:99798800-99805600	Weak transcription	Colonic Mucosa	Colon
36	chr2:99798800-99805600	Weak transcription	Fetal Intestine Large	intestine
37	chr2:99798800-99805600	Weak transcription	NH-A	brain
38	chr2:99798800-99806400	Weak transcription	Thymus	Thymus
39	chr2:99798800-99806600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:99798800-99807800	Weak transcription	NHDF-Ad	bronchial
41	chr2:99798800-99810800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:99798800-99812000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:99798800-99812000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:99798800-99812000	Weak transcription	Fetal Kidney	kidney
45	chr2:99798800-99815400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:99798800-99825600	Weak transcription	Fetal Heart	heart
47	chr2:99799000-99803000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:99799000-99803400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr2:99799000-99803400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:99799000-99803400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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