Variant report

Variant	rs16867197
Chromosome Location	chr2:9992204-9992205
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9990181..9994001-chr2:9995377..9997163,3	MCF-7	breast:
2	chr2:9986181..9988070-chr2:9991011..9993550,2	MCF-7	breast:
3	chr2:9981927..9985713-chr2:9987570..9993259,7	MCF-7	breast:
4	chr2:9985865..9987759-chr2:9990520..9994621,3	MCF-7	breast:
5	chr2:9991892..9995036-chr2:10090453..10092770,3	MCF-7	breast:
6	chr2:9981404..9986079-chr2:9986481..9992681,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134317	Chromatin interaction
ENSG00000115750	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16867200	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16867238	0.88[AFR][1000 genomes]
rs62127132	0.84[AFR][1000 genomes]
rs6707020	0.88[YRI][hapmap];1.00[AFR][1000 genomes]
rs7559232	1.00[AFR][1000 genomes]
rs7570964	1.00[AFR][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	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
5	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9984200-9994000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:9984600-9992600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:9984600-9995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:9984800-9997600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:9984800-9998400	Weak transcription	Pancreas	Pancrea
6	chr2:9985000-9993600	Weak transcription	Right Ventricle	heart
7	chr2:9985000-10000800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:9985200-9995600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:9985200-9997200	Weak transcription	Fetal Heart	heart
10	chr2:9985400-9993800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:9985400-9995400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:9985400-9995400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:9985400-9995400	Weak transcription	Small Intestine	intestine
14	chr2:9985600-9993800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:9985600-9995400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:9985600-9997200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:9985800-9997000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:9986200-9997800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:9986400-9993000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:9986600-9996200	Strong transcription	A549	lung
21	chr2:9986800-9992400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:9987200-10038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:9987400-9997400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:9987400-10003200	Weak transcription	Stomach Mucosa	stomach
25	chr2:9987600-9993000	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:9987600-9997000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:9987600-9998400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:9987800-9995200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:9987800-9996000	Strong transcription	Dnd41	blood
30	chr2:9989000-9995800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:9989000-9997200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:9989000-9997200	Strong transcription	K562	blood
33	chr2:9989000-9997800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:9989000-9997800	Strong transcription	HUVEC	blood vessel
35	chr2:9989000-9997800	Strong transcription	NH-A	brain
36	chr2:9989200-9997000	Strong transcription	HepG2	liver
37	chr2:9989200-9997600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:9989200-9998200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:9989400-9993600	Strong transcription	HMEC	breast
40	chr2:9989400-9996000	Strong transcription	Fetal Brain Female	brain
41	chr2:9989400-9996200	Strong transcription	GM12878-XiMat	blood
42	chr2:9989400-9997600	Strong transcription	NHDF-Ad	bronchial
43	chr2:9989400-9997800	Strong transcription	Fetal Thymus	thymus
44	chr2:9989400-9998200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:9989400-9998400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:9989400-9999200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:9989400-10000600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr2:9989400-10001000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr2:9989600-9992600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:9989600-9993600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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