Variant report

Variant	rs73964815
Chromosome Location	chr2:99956786-99956787
allele	A/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	MAFK	chr2:99956689-99956915	K562	blood:	n/a	n/a
2	RFX5	chr2:99956755-99957179	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
2	chr2:99770887..99773276-chr2:99955255..99957900,2	MCF-7	breast:

Variant related genes	Relation type
TXNDC9	TF binding region
ENSG00000135945	Chromatin interaction
ENSG00000135951	Chromatin interaction
ENSG00000144182	Chromatin interaction
ENSG00000273155	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11542367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3087387	1.00[EUR][1000 genomes]
rs55720283	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364129	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093686	0.83[EUR][1000 genomes]
rs61098335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707685	1.00[EUR][1000 genomes]
rs6723062	1.00[EUR][1000 genomes]
rs7571186	1.00[EUR][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	nsv874699	chr2:99898998-100010044	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv524466	chr2:99952086-100031551	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99951600-99958200	Active TSS	GM12878-XiMat	blood
2	chr2:99954800-99959000	Weak transcription	Lung	lung
3	chr2:99955000-99956800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:99955000-99956800	Weak transcription	Small Intestine	intestine
5	chr2:99955000-99957000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:99955000-99957200	Enhancers	Primary B cells from cord blood	blood
7	chr2:99955000-99957200	Weak transcription	Left Ventricle	heart
8	chr2:99955000-99957400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:99955000-99958400	Enhancers	Liver	Liver
10	chr2:99955000-99959800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:99955000-99964800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:99955000-99965400	Weak transcription	Gastric	stomach
13	chr2:99955000-99977000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:99955000-99979200	Weak transcription	Fetal Stomach	stomach
15	chr2:99955000-99979800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:99955200-99956800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:99955200-99956800	Weak transcription	Fetal Intestine Small	intestine
18	chr2:99955200-99957000	Enhancers	Fetal Intestine Large	intestine
19	chr2:99955200-99961600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:99955200-99974400	Weak transcription	Thymus	Thymus
21	chr2:99955200-99979600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:99955200-99982600	Weak transcription	Fetal Brain Male	brain
23	chr2:99955400-99956800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:99955400-99956800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:99955400-99956800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:99955400-99957000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:99955400-99957200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:99955400-99957600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:99955400-99959000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:99955400-99964400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:99955400-99970000	Weak transcription	NHDF-Ad	bronchial
32	chr2:99955400-99976800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:99955400-99979600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:99955400-99979600	Weak transcription	NH-A	brain
35	chr2:99955600-99964600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:99955600-99978200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:99955800-99956800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:99955800-99956800	Weak transcription	Pancreas	Pancrea
39	chr2:99955800-99961600	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:99955800-99976800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:99956000-99957000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr2:99956000-99957000	Flanking Active TSS	K562	blood
43	chr2:99956000-99957600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:99956000-99958000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:99956000-99963800	Weak transcription	Primary T cells from cord blood	blood
46	chr2:99956000-99976400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:99956200-99956800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:99956200-99957000	Enhancers	Dnd41	blood
49	chr2:99956200-99957200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:99956200-99957200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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