Variant report

Variant	rs61098335
Chromosome Location	chr2:99965240-99965241
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99964510..99967470-chr2:99972914..99975520,2	K562	blood:
2	chr2:99965212..99967140-chr2:99975946..99978198,2	K562	blood:
3	chr2:99952927..99955352-chr2:99963905..99965693,2	MCF-7	breast:
4	chr2:99951229..99952887-chr2:99962996..99965324,2	MCF-7	breast:
5	chr2:99961156..99963185-chr2:99963763..99968459,4	K562	blood:

Variant related genes	Relation type
ENSG00000158417	Chromatin interaction
ENSG00000115514	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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3087387	1.00[EUR][1000 genomes]
rs55720283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093686	0.83[EUR][1000 genomes]
rs6707685	1.00[EUR][1000 genomes]
rs6723062	1.00[EUR][1000 genomes]
rs73964815	1.00[AMR][1000 genomes];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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99955000-99965400	Weak transcription	Gastric	stomach
2	chr2:99955000-99977000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:99955000-99979200	Weak transcription	Fetal Stomach	stomach
4	chr2:99955000-99979800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:99955200-99974400	Weak transcription	Thymus	Thymus
6	chr2:99955200-99979600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:99955200-99982600	Weak transcription	Fetal Brain Male	brain
8	chr2:99955400-99970000	Weak transcription	NHDF-Ad	bronchial
9	chr2:99955400-99976800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:99955400-99979600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:99955400-99979600	Weak transcription	NH-A	brain
12	chr2:99955600-99978200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:99955800-99976800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:99956000-99976400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:99956200-99970200	Weak transcription	Osteobl	bone
16	chr2:99956200-99976600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:99956200-99977600	Weak transcription	Fetal Thymus	thymus
18	chr2:99956200-100004800	Weak transcription	Fetal Heart	heart
19	chr2:99956400-99979600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:99956400-99979600	Weak transcription	HUVEC	blood vessel
21	chr2:99956600-99977200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:99956800-99966800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:99957000-99977200	Weak transcription	Dnd41	blood
24	chr2:99957000-99978000	Weak transcription	Small Intestine	intestine
25	chr2:99957400-99978200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:99957600-99973000	Weak transcription	Psoas Muscle	Psoas
27	chr2:99957600-99974200	Weak transcription	Pancreas	Pancrea
28	chr2:99957600-99989400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:99957800-99978200	Weak transcription	Hela-S3	cervix
30	chr2:99958000-99965400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:99958000-99969800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:99958000-99970000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:99958000-99978800	Weak transcription	Fetal Intestine Small	intestine
34	chr2:99958200-99970000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:99958200-99970200	Weak transcription	NHEK	skin
36	chr2:99958200-99979600	Weak transcription	A549	lung
37	chr2:99958600-99973200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr2:99959800-99977000	Weak transcription	HepG2	liver
39	chr2:99959800-99980000	Weak transcription	Lung	lung
40	chr2:99960600-99976200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:99961200-99979400	Weak transcription	Ovary	ovary
42	chr2:99962400-99970600	Weak transcription	HMEC	breast
43	chr2:99962400-99973200	Weak transcription	Left Ventricle	heart
44	chr2:99962400-99979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:99962400-99979800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:99962600-99977800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:99963000-99976600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:99963600-99967800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:99963600-99968000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr2:99963800-99966000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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