Variant report

Variant	rs72821966
Chromosome Location	chr2:99191775-99191776
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99190176..99192364-chr2:99202343..99204670,2	MCF-7	breast:
2	chr2:99191675..99194034-chr2:99224527..99227120,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115446	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10153924	1.00[AFR][1000 genomes]
rs4850887	1.00[AFR][1000 genomes]
rs4851156	1.00[AFR][1000 genomes]
rs4851157	1.00[AFR][1000 genomes]
rs4851158	1.00[AFR][1000 genomes]
rs4851159	1.00[AFR][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	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
2	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
3	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99147200-99200200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:99148400-99211200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:99149000-99209800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:99149000-99210800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:99149200-99210800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:99156400-99197000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:99159800-99201600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:99163000-99215000	Weak transcription	HMEC	breast
9	chr2:99163800-99194000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:99164400-99210800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:99167600-99193400	Weak transcription	Fetal Heart	heart
12	chr2:99168000-99205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:99168400-99210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:99168600-99197600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:99169400-99222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:99173200-99205000	Strong transcription	Primary T cells from cord blood	blood
17	chr2:99173400-99204800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:99174000-99204000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:99174600-99207800	Weak transcription	HUVEC	blood vessel
20	chr2:99176000-99205400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:99176200-99203400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:99176200-99210600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr2:99176400-99205200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:99177400-99201600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:99177400-99210800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:99177400-99213000	Weak transcription	NHDF-Ad	bronchial
27	chr2:99177400-99216200	Weak transcription	NH-A	brain
28	chr2:99177400-99221000	Weak transcription	Psoas Muscle	Psoas
29	chr2:99178200-99201400	Strong transcription	Fetal Stomach	stomach
30	chr2:99178800-99193800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:99178800-99201200	Strong transcription	Spleen	Spleen
32	chr2:99179200-99196600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:99179400-99198600	Strong transcription	Fetal Intestine Small	intestine
34	chr2:99179400-99204200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:99179600-99195400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:99179600-99195400	Strong transcription	Placenta	Placenta
37	chr2:99179600-99196800	Strong transcription	Liver	Liver
38	chr2:99179800-99195600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:99179800-99196800	Strong transcription	Brain Germinal Matrix	brain
40	chr2:99179800-99206000	Strong transcription	Lung	lung
41	chr2:99180200-99201000	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:99180200-99204200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr2:99180400-99195200	Strong transcription	Brain Hippocampus Middle	brain
44	chr2:99180400-99195600	Strong transcription	Fetal Intestine Large	intestine
45	chr2:99180400-99196400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:99181000-99210400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:99181200-99200200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:99181600-99201200	Strong transcription	Fetal Brain Female	brain
49	chr2:99181600-99215600	Weak transcription	Small Intestine	intestine
50	chr2:99182000-99197800	Strong transcription	Fetal Muscle Trunk	muscle

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