Variant report

Variant	rs4075111
Chromosome Location	chr2:233948264-233948265
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233947227..233949457-chr2:233951983..233954748,2	K562	blood:
2	chr2:233939365..233942307-chr2:233943913..233949317,5	K562	blood:

Variant related genes	Relation type
ENSG00000168918	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55749303	0.87[ASN][1000 genomes]
rs55816734	0.83[ASN][1000 genomes]
rs55827216	0.83[ASN][1000 genomes]
rs56359974	0.83[ASN][1000 genomes]
rs61487211	0.83[ASN][1000 genomes]
rs6704675	0.83[ASN][1000 genomes]
rs6704948	0.83[ASN][1000 genomes]
rs6717732	0.83[ASN][1000 genomes]
rs6717971	0.83[ASN][1000 genomes]
rs6746785	0.83[ASN][1000 genomes]
rs72982218	0.83[ASN][1000 genomes]
rs72982225	0.83[ASN][1000 genomes]
rs72982227	0.83[ASN][1000 genomes]
rs72982230	0.83[ASN][1000 genomes]
rs72982235	0.83[ASN][1000 genomes]
rs72982236	0.83[ASN][1000 genomes]
rs72982239	0.83[ASN][1000 genomes]
rs72982242	0.83[ASN][1000 genomes]
rs72982244	0.83[ASN][1000 genomes]
rs7601830	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7606583	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233942600-233948800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:233943000-233951400	Genic enhancers	Fetal Thymus	thymus
3	chr2:233943800-233950800	Enhancers	Placenta	Placenta
4	chr2:233944600-233948800	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr2:233945000-233948400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
6	chr2:233945000-233949600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr2:233945000-233949800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr2:233945400-233949000	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:233945400-233950000	Enhancers	Colonic Mucosa	Colon
10	chr2:233945400-233950200	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:233945600-233948600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr2:233945800-233952600	Enhancers	Adipose Nuclei	Adipose
13	chr2:233946400-233948400	Enhancers	Thymus	Thymus
14	chr2:233946800-233949200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr2:233946800-233950200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr2:233946800-233951800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:233946800-233952000	Enhancers	Fetal Muscle Leg	muscle
18	chr2:233946800-233958600	Weak transcription	Brain Anterior Caudate	brain
19	chr2:233947000-233948600	Enhancers	Small Intestine	intestine
20	chr2:233947000-233948600	Enhancers	K562	blood
21	chr2:233947000-233948800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:233947000-233950800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr2:233947200-233948600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:233947200-233948800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr2:233947200-233949200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:233947200-233951400	Enhancers	Spleen	Spleen
27	chr2:233947400-233948400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:233947400-233948400	Enhancers	Lung	lung
29	chr2:233947400-233949000	Enhancers	HUVEC	blood vessel
30	chr2:233947400-233949400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr2:233947400-233949600	Genic enhancers	HepG2	liver
32	chr2:233947600-233948400	Enhancers	Right Atrium	heart
33	chr2:233947600-233948600	Genic enhancers	Primary hematopoietic stem cells	blood
34	chr2:233947600-233948600	Enhancers	HSMMtube	muscle
35	chr2:233947600-233948800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
36	chr2:233947600-233949000	Enhancers	Left Ventricle	heart
37	chr2:233947600-233949600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr2:233947600-233949800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr2:233947600-233951200	Weak transcription	Fetal Intestine Small	intestine
40	chr2:233947800-233948400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr2:233947800-233948600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:233947800-233948600	Enhancers	Esophagus	oesophagus
43	chr2:233947800-233948600	Enhancers	Right Ventricle	heart
44	chr2:233947800-233948600	Enhancers	HSMM	muscle
45	chr2:233947800-233949000	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
46	chr2:233947800-233949000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:233947800-233949000	Enhancers	Psoas Muscle	Psoas
48	chr2:233947800-233949200	Enhancers	Fetal Stomach	stomach
49	chr2:233947800-233949600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:233947800-233949800	Flanking Active TSS	Primary T cells from cord blood	blood

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