Variant report

Variant	rs16823971
Chromosome Location	chr2:183944669-183944670
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183902000..183906390-chr2:183941845..183945087,6	MCF-7	breast:
2	chr2:183939801..183941684-chr2:183944000..183946021,2	K562	blood:
3	chr2:183936424..183941841-chr2:183941943..183946520,8	K562	blood:

Variant related genes	Relation type
ENSG00000061676	Chromatin interaction
ENSG00000231203	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10165922	0.80[ASN][1000 genomes]
rs10170163	0.83[ASN][1000 genomes]
rs10174477	0.80[ASN][1000 genomes]
rs10183561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10200193	0.81[ASN][1000 genomes]
rs10460315	0.85[ASN][1000 genomes]
rs11682917	0.82[EUR][1000 genomes]
rs11692613	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12463411	0.85[ASN][1000 genomes]
rs12693331	0.92[ASN][1000 genomes]
rs13399265	0.85[ASN][1000 genomes]
rs13419900	0.80[ASN][1000 genomes]
rs1400132	0.89[CEU][hapmap]
rs16823717	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823721	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16823723	0.82[EUR][1000 genomes]
rs16823967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16823970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823974	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823976	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16824001	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16824018	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs16824025	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs16824033	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs16824048	0.82[EUR][1000 genomes]
rs16824059	0.82[EUR][1000 genomes]
rs16824095	0.82[EUR][1000 genomes]
rs16824106	0.82[EUR][1000 genomes]
rs1812647	0.85[ASN][1000 genomes]
rs1882440	0.80[ASN][1000 genomes]
rs2017742	0.82[EUR][1000 genomes]
rs2138482	0.85[ASN][1000 genomes]
rs2138484	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2138485	0.90[ASN][1000 genomes]
rs2176228	0.82[ASN][1000 genomes]
rs2176232	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs2247840	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2368335	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2368354	0.84[ASN][1000 genomes]
rs2368372	0.82[EUR][1000 genomes]
rs2368373	0.82[EUR][1000 genomes]
rs2675117	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.98[ASN][1000 genomes]
rs2705714	0.87[ASN][1000 genomes]
rs2944346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2952345	1.00[JPT][hapmap]
rs3748879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3748881	0.82[EUR][1000 genomes]
rs3748882	0.82[EUR][1000 genomes]
rs3762476	0.82[EUR][1000 genomes]
rs4597478	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4666607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4666611	0.82[EUR][1000 genomes]
rs4666612	0.82[EUR][1000 genomes]
rs4666885	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs4666887	0.82[ASN][1000 genomes]
rs4666892	0.82[EUR][1000 genomes]
rs55942934	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56271556	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59041013	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61283216	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61526412	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6742203	0.92[ASN][1000 genomes]
rs73035651	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73036601	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs867340	0.82[ASN][1000 genomes]
rs925805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9333281	0.86[EUR][1000 genomes]
rs9333283	0.88[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183942800-183944800	Active TSS	Fetal Brain Female	brain
2	chr2:183942800-183944800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:183942800-183944800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr2:183942800-183945000	Active TSS	Brain Anterior Caudate	brain
5	chr2:183942800-183945000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:183943000-183944800	Active TSS	Aorta	Aorta
7	chr2:183943000-183944800	Active TSS	Ovary	ovary
8	chr2:183943000-183944800	Active TSS	Right Atrium	heart
9	chr2:183943000-183944800	Active TSS	Right Ventricle	heart
10	chr2:183943000-183945000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr2:183943000-183945000	Active TSS	Left Ventricle	heart
12	chr2:183943000-183945600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:183943800-183944800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:183943800-183944800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:183944000-183944800	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr2:183944000-183945400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:183944200-183944800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:183944200-183944800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:183944200-183944800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr2:183944200-183944800	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr2:183944200-183944800	Flanking Active TSS	Fetal Heart	heart
22	chr2:183944200-183945000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr2:183944200-183945000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:183944200-183945600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:183944200-183945600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:183944400-183944800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:183944400-183944800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr2:183944400-183944800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:183944400-183944800	Enhancers	Liver	Liver
30	chr2:183944400-183944800	Enhancers	Stomach Mucosa	stomach
31	chr2:183944400-183944800	Flanking Active TSS	Osteobl	bone
32	chr2:183944400-183945400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:183944400-183945600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:183944400-183945800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:183944400-183946600	Weak transcription	HSMMtube	muscle
36	chr2:183944400-183946800	Weak transcription	Pancreas	Pancrea
37	chr2:183944600-183944800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr2:183944600-183944800	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:183944600-183944800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:183944600-183944800	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr2:183944600-183944800	Active TSS	Fetal Lung	lung
42	chr2:183944600-183944800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr2:183944600-183944800	Enhancers	Rectal Smooth Muscle	rectum
44	chr2:183944600-183944800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:183944600-183945000	Enhancers	Adipose Nuclei	Adipose
46	chr2:183944600-183945000	Active TSS	Brain Cingulate Gyrus	brain
47	chr2:183944600-183945000	Active TSS	Duodenum Mucosa	Duodenum
48	chr2:183944600-183945000	Enhancers	Fetal Intestine Large	intestine
49	chr2:183944600-183945000	Enhancers	Fetal Intestine Small	intestine
50	chr2:183944600-183945000	Enhancers	Fetal Stomach	stomach

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