Variant report

Variant	rs3820944
Chromosome Location	chr2:99121286-99121287
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99116277..99118383-chr2:99120002..99123147,3	K562	blood:
2	chr2:99108653..99110260-chr2:99120805..99122639,2	K562	blood:
3	chr2:99119306..99122236-chr2:99124547..99127818,4	MCF-7	breast:
4	chr2:99119880..99121608-chr2:99124862..99126749,2	MCF-7	breast:
5	chr2:99121252..99123677-chr2:99147089..99148766,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13395005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13429817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17030716	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17502330	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2271041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3171842	1.00[ASN][1000 genomes]
rs3731655	1.00[ASN][1000 genomes]
rs3769704	0.87[ASN][1000 genomes]
rs3769720	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769722	1.00[ASN][1000 genomes]
rs3769731	1.00[ASN][1000 genomes]
rs3769732	1.00[ASN][1000 genomes]
rs3769742	1.00[ASN][1000 genomes]
rs41460047	1.00[ASN][1000 genomes]
rs7564438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7589617	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7602422	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7604711	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9631039	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv2840	chr2:99116934-99162190	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99100400-99121600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:99101600-99131400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:99102200-99122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:99112200-99130600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:99113600-99123600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:99114000-99124200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:99114000-99137600	Weak transcription	Fetal Intestine Large	intestine
8	chr2:99114400-99123400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:99114400-99131200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:99114400-99154000	Weak transcription	HepG2	liver
11	chr2:99115000-99135000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:99115200-99123000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:99116000-99122000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:99116400-99121600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:99116400-99122200	Enhancers	Placenta	Placenta
16	chr2:99116600-99121600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:99116600-99122000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:99116600-99137800	Weak transcription	Fetal Brain Female	brain
19	chr2:99116800-99123400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:99116800-99135600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:99117200-99131200	Weak transcription	Fetal Kidney	kidney
22	chr2:99117600-99123000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr2:99117800-99122000	Enhancers	Psoas Muscle	Psoas
24	chr2:99117800-99122200	Genic enhancers	GM12878-XiMat	blood
25	chr2:99117800-99122600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:99117800-99123200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr2:99117800-99123400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:99118000-99122200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:99118000-99122200	Enhancers	Right Ventricle	heart
30	chr2:99118000-99123200	Enhancers	Lung	lung
31	chr2:99118000-99124800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:99118000-99126000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:99118000-99129400	Genic enhancers	Primary T cells from cord blood	blood
34	chr2:99118200-99125000	Enhancers	Spleen	Spleen
35	chr2:99118200-99126000	Enhancers	Brain Anterior Caudate	brain
36	chr2:99118200-99126200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:99118400-99121800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:99118400-99121800	Enhancers	Brain Angular Gyrus	brain
39	chr2:99118400-99121800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:99118400-99122000	Enhancers	Adipose Nuclei	Adipose
41	chr2:99118400-99122000	Enhancers	Right Atrium	heart
42	chr2:99118400-99122200	Enhancers	Left Ventricle	heart
43	chr2:99118400-99122400	Enhancers	Brain Cingulate Gyrus	brain
44	chr2:99118400-99123000	Enhancers	HSMMtube	muscle
45	chr2:99118400-99123200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:99118400-99123400	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:99118600-99122200	Enhancers	Brain Substantia Nigra	brain
48	chr2:99118600-99122800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:99118600-99123600	Enhancers	Brain Hippocampus Middle	brain
50	chr2:99118600-99124600	Weak transcription	Stomach Mucosa	stomach

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