Variant report

Variant	rs6485688
Chromosome Location	chr11:46762142-46762143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46761363..46764873-chr11:46765216..46768275,3	K562	blood:
2	chr11:46720872..46723638-chr11:46759944..46762583,2	K562	blood:
3	chr11:46760225..46762619-chr11:46766210..46768757,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175220	Chromatin interaction
ENSG00000175213	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10742785	1.00[EUR][1000 genomes]
rs10838631	1.00[EUR][1000 genomes]
rs3136431	0.84[YRI][hapmap]
rs3136497	0.84[YRI][hapmap]
rs3136519	0.84[YRI][hapmap]
rs4603264	0.84[YRI][hapmap]
rs4752934	1.00[EUR][1000 genomes]
rs4752935	1.00[EUR][1000 genomes]
rs4752937	1.00[EUR][1000 genomes]
rs4752946	1.00[ASW][hapmap];0.84[LWK][hapmap];0.92[YRI][hapmap]
rs6485694	0.80[YRI][hapmap]
rs6485709	1.00[EUR][1000 genomes]
rs6485710	1.00[EUR][1000 genomes]
rs7110643	1.00[EUR][1000 genomes]
rs7123634	1.00[EUR][1000 genomes]
rs7930852	1.00[EUR][1000 genomes]
rs7930991	1.00[EUR][1000 genomes]
rs898603	1.00[EUR][1000 genomes]
rs9794941	1.00[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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers 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 miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46746000-46762800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:46749800-46764000	Weak transcription	Aorta	Aorta
3	chr11:46750000-46762800	Weak transcription	Spleen	Spleen
4	chr11:46751200-46762600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:46751400-46762600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:46752000-46762800	Weak transcription	Gastric	stomach
7	chr11:46752000-46763400	Weak transcription	Esophagus	oesophagus
8	chr11:46753000-46786600	Weak transcription	Right Atrium	heart
9	chr11:46757400-46762600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:46757400-46762800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:46757800-46762600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:46757800-46762800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:46758000-46762600	Weak transcription	Fetal Brain Female	brain
14	chr11:46758200-46763200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:46758400-46762400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:46758400-46762800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:46758400-46763400	Strong transcription	HepG2	liver
18	chr11:46758600-46762800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:46758800-46762600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:46758800-46762600	Weak transcription	HUVEC	blood vessel
21	chr11:46758800-46762600	Weak transcription	Osteobl	bone
22	chr11:46758800-46762800	Weak transcription	HMEC	breast
23	chr11:46759000-46762600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:46759000-46762600	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:46759000-46762600	Weak transcription	Thymus	Thymus
26	chr11:46759000-46762800	Weak transcription	Primary B cells from cord blood	blood
27	chr11:46759000-46762800	Weak transcription	Pancreas	Pancrea
28	chr11:46759000-46762800	Weak transcription	Hela-S3	cervix
29	chr11:46759000-46763200	Weak transcription	NHLF	lung
30	chr11:46759000-46768000	Strong transcription	Liver	Liver
31	chr11:46759400-46762600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:46759400-46762800	Weak transcription	Lung	lung
33	chr11:46759400-46762800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:46759400-46763200	Weak transcription	NHEK	skin
35	chr11:46759800-46762600	Weak transcription	Brain Germinal Matrix	brain
36	chr11:46759800-46762800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:46759800-46762800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:46760000-46762400	Weak transcription	Adipose Nuclei	Adipose
39	chr11:46760000-46762600	Weak transcription	Dnd41	blood
40	chr11:46760200-46762600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:46760200-46762600	Weak transcription	HSMM	muscle
42	chr11:46760200-46763400	Weak transcription	Brain Anterior Caudate	brain
43	chr11:46760200-46763400	Weak transcription	Fetal Brain Male	brain
44	chr11:46760200-46764600	Weak transcription	Psoas Muscle	Psoas
45	chr11:46760200-46786800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:46760200-46794800	Strong transcription	A549	lung
47	chr11:46760400-46764600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:46760400-46765600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:46760400-46777400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:46760400-46781400	Weak transcription	Stomach Mucosa	stomach

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