Variant report

Variant	rs11904306
Chromosome Location	chr2:74076269-74076270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:74075685..74077271-chr2:74214130..74216344,2	K562	blood:
2	chr2:74055927..74057429-chr2:74073440..74076428,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10169994	1.00[EUR][1000 genomes]
rs10192291	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11126418	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11885982	0.83[EUR][1000 genomes]
rs11887510	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs11888468	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11890343	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11890498	0.88[YRI][hapmap]
rs13384232	1.00[CEU][hapmap];0.96[MKK][hapmap]
rs13402321	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13409194	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17009399	1.00[CEU][hapmap]
rs55815836	1.00[EUR][1000 genomes]
rs56055081	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59098607	0.83[EUR][1000 genomes]
rs6720781	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7570391	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7596123	0.94[EUR][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	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
3	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74057000-74093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:74060400-74076800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:74064000-74079200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:74065000-74094400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:74065600-74094400	Strong transcription	Dnd41	blood
6	chr2:74066200-74083600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:74066400-74091600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:74066400-74094400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr2:74066600-74094200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:74066600-74094400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:74066800-74078200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:74066800-74094200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:74067000-74078000	Strong transcription	NHEK	skin
14	chr2:74067000-74078200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:74067000-74094200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:74068000-74078400	Weak transcription	HUVEC	blood vessel
17	chr2:74068400-74079000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:74068400-74084800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:74068600-74078200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:74068600-74094200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:74068800-74094400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:74068800-74094400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:74069600-74083400	Strong transcription	GM12878-XiMat	blood
24	chr2:74069600-74084200	Weak transcription	Stomach Mucosa	stomach
25	chr2:74070400-74090000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:74070600-74094200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:74070800-74089600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:74070800-74093000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:74070800-74094200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:74070800-74094200	Strong transcription	Liver	Liver
31	chr2:74070800-74094400	Strong transcription	Placenta	Placenta
32	chr2:74070800-74094400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr2:74071000-74079200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:74071000-74085200	Strong transcription	Brain Hippocampus Middle	brain
35	chr2:74071000-74094400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:74071200-74076800	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:74071200-74078200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:74071200-74081200	Strong transcription	Brain Germinal Matrix	brain
39	chr2:74071200-74083600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:74071200-74093800	Strong transcription	HepG2	liver
41	chr2:74071200-74094200	Strong transcription	Adipose Nuclei	Adipose
42	chr2:74071200-74094200	Strong transcription	Fetal Brain Female	brain
43	chr2:74071200-74094200	Strong transcription	Fetal Thymus	thymus
44	chr2:74071200-74094400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:74071400-74077600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:74071400-74077800	Strong transcription	Fetal Kidney	kidney
47	chr2:74071400-74078200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr2:74071400-74078600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:74071400-74078600	Strong transcription	HSMM	muscle
50	chr2:74071400-74078600	Strong transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links