Variant report

Variant	rs57169069
Chromosome Location	chr2:97590779-97590780
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97587758..97596829-chr2:97597446..97601811,11	K562	blood:
2	chr2:97522694..97525971-chr2:97587998..97591660,3	K562	blood:
3	chr2:97583057..97585198-chr2:97588467..97591915,3	K562	blood:
4	chr2:97548252..97550212-chr2:97588588..97591450,2	MCF-7	breast:
5	chr2:97570898..97573698-chr2:97588276..97590943,2	K562	blood:
6	chr2:97589310..97591841-chr2:97591978..97596020,4	MCF-7	breast:
7	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
8	chr2:97588776..97591371-chr2:97597850..97600657,3	MCF-7	breast:
9	chr2:97556750..97558871-chr2:97588696..97591655,2	MCF-7	breast:
10	chr2:97584974..97587499-chr2:97587901..97590886,3	K562	blood:
11	chr2:97556985..97558977-chr2:97588786..97591585,2	K562	blood:
12	chr2:97584997..97587138-chr2:97589413..97591489,2	MCF-7	breast:
13	chr2:97590638..97593151-chr2:97603890..97606956,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNNM3-1	chr2:97589781-97591573	ENSG00000246515
2	lnc-CNNM3-1	chr2:97589781-97591574	NONHSAT072593

No data

Variant related genes	Relation type
ENSG00000168758	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000213337	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11884381	1.00[AMR][1000 genomes]
rs61073402	1.00[AMR][1000 genomes]
rs72942934	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942951	1.00[AMR][1000 genomes]
rs7582688	1.00[AMR][1000 genomes]
rs7594281	1.00[AMR][1000 genomes]
rs7602647	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97582600-97593000	Weak transcription	Right Atrium	heart
2	chr2:97585200-97591000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:97587000-97592200	Weak transcription	Brain Germinal Matrix	brain
4	chr2:97589400-97591000	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:97589400-97593800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:97589600-97590800	Enhancers	Fetal Lung	lung
7	chr2:97589600-97591200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr2:97589600-97591200	Enhancers	Fetal Heart	heart
9	chr2:97589600-97591400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr2:97589600-97591600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr2:97589600-97593200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:97589800-97591000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:97589800-97591000	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr2:97589800-97591000	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr2:97589800-97591000	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr2:97589800-97591200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr2:97589800-97591200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr2:97589800-97591200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr2:97589800-97591200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr2:97589800-97591400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:97589800-97595200	Enhancers	Fetal Brain Male	brain
22	chr2:97590000-97591000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:97590000-97591600	Enhancers	K562	blood
24	chr2:97590000-97592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:97590200-97590800	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr2:97590200-97590800	Flanking Active TSS	Fetal Thymus	thymus
27	chr2:97590200-97591000	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr2:97590200-97591400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:97590400-97590800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:97590400-97590800	Flanking Active TSS	Fetal Brain Female	brain
31	chr2:97590400-97591000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:97590400-97591000	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr2:97590400-97591000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:97590400-97592800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:97590400-97593200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:97590600-97590800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:97590600-97590800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:97590600-97590800	Active TSS	Brain Cingulate Gyrus	brain
39	chr2:97590600-97590800	Enhancers	Spleen	Spleen
40	chr2:97590600-97591000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr2:97590600-97591000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:97590600-97591200	Enhancers	Fetal Stomach	stomach
43	chr2:97590600-97591200	Enhancers	Rectal Smooth Muscle	rectum
44	chr2:97590600-97591600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:97590600-97592200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:97590600-97592200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:97590600-97593600	Enhancers	Brain Angular Gyrus	brain

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