Variant report

Variant	rs11111983
Chromosome Location	chr12:104690947-104690948
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104688661..104692008-chr12:104701962..104705113,4	MCF-7	breast:
2	chr12:104689111..104691925-chr12:104705420..104707657,2	MCF-7	breast:
3	chr12:104614582..104616135-chr12:104689398..104692216,2	MCF-7	breast:
4	chr12:104679689..104685346-chr12:104688497..104691899,10	MCF-7	breast:
5	chr12:104599765..104602072-chr12:104689282..104691994,2	MCF-7	breast:
6	chr12:104603017..104605976-chr12:104690330..104692647,2	MCF-7	breast:
7	chr12:104688038..104691573-chr12:104694221..104698678,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255150	Chromatin interaction
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10735392	0.83[AMR][1000 genomes]
rs10735395	0.82[AMR][1000 genomes]
rs10861204	0.82[AMR][1000 genomes]
rs4246269	0.82[AMR][1000 genomes]
rs4246270	0.82[AMR][1000 genomes]
rs4246271	0.82[AMR][1000 genomes]
rs4447242	0.80[AMR][1000 genomes]
rs4502051	0.83[AMR][1000 genomes]
rs4964288	0.82[AMR][1000 genomes]
rs4964741	0.82[AMR][1000 genomes]
rs4964752	0.80[AMR][1000 genomes]
rs4964761	0.82[AMR][1000 genomes]
rs4964779	0.83[AMR][1000 genomes]
rs4964784	0.82[AMR][1000 genomes]
rs7139336	0.82[AMR][1000 genomes]
rs7294997	0.82[AMR][1000 genomes]
rs7298613	0.83[AMR][1000 genomes]
rs7303483	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7962423	0.80[AMR][1000 genomes]
rs7969351	0.80[AMR][1000 genomes]
rs7972034	0.80[AMR][1000 genomes]
rs9738614	0.82[AMR][1000 genomes]
rs9739826	0.82[AMR][1000 genomes]
rs9739833	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr12:104683400-104696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:104683800-104693800	Weak transcription	Fetal Heart	heart
3	chr12:104683800-104696600	Weak transcription	Brain Anterior Caudate	brain
4	chr12:104683800-104696800	Weak transcription	Fetal Brain Male	brain
5	chr12:104683800-104697000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:104684200-104693400	Strong transcription	Fetal Thymus	thymus
8	chr12:104684200-104696600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:104684400-104696600	Weak transcription	Right Atrium	heart
10	chr12:104684600-104694400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:104684600-104694800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:104684800-104693000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:104684800-104693200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:104685000-104695000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:104685400-104691800	Strong transcription	Primary T cells from cord blood	blood
16	chr12:104685600-104691000	Strong transcription	Primary B cells from cord blood	blood
17	chr12:104685600-104691800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:104685800-104691800	Strong transcription	Thymus	Thymus
19	chr12:104685800-104696800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:104686000-104694200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:104686000-104696800	Weak transcription	Brain Angular Gyrus	brain
22	chr12:104686200-104696800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:104686200-104700600	Strong transcription	Dnd41	blood
24	chr12:104686400-104697600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:104686600-104692000	Strong transcription	Primary hematopoietic stem cells	blood
26	chr12:104686800-104694200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:104686800-104694400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:104686800-104696600	Weak transcription	Fetal Intestine Small	intestine
29	chr12:104687000-104691400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:104687200-104696800	Weak transcription	Psoas Muscle	Psoas
31	chr12:104687200-104700600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:104687400-104696600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr12:104687400-104696600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:104687400-104696600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:104687400-104697000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:104687600-104697400	Weak transcription	Gastric	stomach
37	chr12:104688000-104694400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:104688000-104694400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:104688200-104693000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:104688200-104694200	Strong transcription	GM12878-XiMat	blood
41	chr12:104688400-104691600	Genic enhancers	Osteobl	bone
42	chr12:104688400-104691800	Genic enhancers	NHLF	lung
43	chr12:104688400-104693600	Strong transcription	NH-A	brain
44	chr12:104688400-104695000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:104688400-104695400	Genic enhancers	HUVEC	blood vessel
46	chr12:104688600-104691800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:104688600-104694400	Strong transcription	K562	blood
48	chr12:104688600-104695600	Enhancers	Stomach Mucosa	stomach
49	chr12:104688800-104691800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:104688800-104691800	Genic enhancers	HMEC	breast

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