Variant report

Variant	rs11119985
Chromosome Location	chr1:212769411-212769412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212657982..212660814-chr1:212768286..212770089,2	K562	blood:
2	chr1:212730956..212733747-chr1:212768474..212770624,3	K562	blood:
3	chr1:212767988..212769850-chr1:212779796..212782944,3	MCF-7	breast:
4	chr1:212758746..212766071-chr1:212766312..212770844,12	K562	blood:
5	chr1:212729441..212732578-chr1:212767318..212772048,4	K562	blood:
6	chr1:212656733..212659516-chr1:212769214..212770797,2	MCF-7	breast:
7	chr1:212752565..212754879-chr1:212767873..212770095,2	K562	blood:

Variant related genes	Relation type
ENSG00000260805	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494952	1.00[YRI][hapmap]
rs10735510	0.80[JPT][hapmap];0.81[AMR][1000 genomes]
rs11119982	0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12070345	0.84[CEU][hapmap];0.84[JPT][hapmap]
rs12144852	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12401671	1.00[YRI][hapmap]

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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212766800-212771200	Enhancers	Placenta	Placenta
2	chr1:212767200-212770200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:212767200-212770600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:212767400-212769800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:212767400-212770400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:212767600-212769800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:212767800-212770400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:212768000-212770400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:212768400-212770200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:212768600-212769800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:212768600-212770000	Flanking Active TSS	Dnd41	blood
12	chr1:212768600-212770200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr1:212768600-212770400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:212768600-212771200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:212768600-212771200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:212768600-212771400	Enhancers	Fetal Intestine Small	intestine
17	chr1:212768800-212769600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:212768800-212769600	Enhancers	Thymus	Thymus
19	chr1:212768800-212769800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr1:212768800-212769800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:212768800-212769800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:212768800-212770000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:212768800-212770000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:212768800-212770000	Enhancers	NHLF	lung
25	chr1:212768800-212770200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:212768800-212770200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr1:212768800-212770400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:212768800-212770400	Enhancers	Fetal Thymus	thymus
29	chr1:212768800-212770400	Flanking Active TSS	GM12878-XiMat	blood
30	chr1:212768800-212771200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:212768800-212771400	Enhancers	Fetal Intestine Large	intestine
32	chr1:212769000-212769600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:212769000-212769600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:212769000-212769600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:212769000-212769600	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:212769000-212769600	Flanking Active TSS	NH-A	brain
37	chr1:212769000-212769800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:212769000-212769800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:212769000-212769800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:212769000-212769800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:212769000-212769800	Enhancers	HSMM	muscle
42	chr1:212769000-212769800	Enhancers	NHDF-Ad	bronchial
43	chr1:212769000-212769800	Enhancers	Osteobl	bone
44	chr1:212769000-212770200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr1:212769000-212770200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr1:212769000-212770200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:212769000-212770200	Enhancers	Adipose Nuclei	Adipose
48	chr1:212769000-212770200	Enhancers	HSMMtube	muscle
49	chr1:212769000-212770400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:212769200-212769600	Enhancers	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links