Variant report

Variant	rs2430981
Chromosome Location	chr11:65842542-65842543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65842058..65844229-chr11:65885606..65887262,2	MCF-7	breast:
2	chr11:65837300..65840343-chr11:65840812..65845835,6	K562	blood:
3	chr11:65818921..65820486-chr11:65841745..65844587,2	K562	blood:
4	chr11:65840513..65843599-chr11:65845942..65848991,3	K562	blood:
5	chr11:65810450..65813248-chr11:65842364..65844217,2	K562	blood:

Variant related genes	Relation type
ENSG00000087365	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1151532	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190945	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190946	1.00[AMR][1000 genomes]
rs1191715	0.86[AFR][1000 genomes]
rs1203551	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203552	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203749	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203750	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203801	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630638	0.86[AFR][1000 genomes]
rs1783562	0.82[AFR][1000 genomes]
rs2452687	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3017606	1.00[AMR][1000 genomes]
rs471709	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472853	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475817	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477001	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485547	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4930332	0.86[AFR][1000 genomes]
rs502898	1.00[AMR][1000 genomes]
rs503813	1.00[EUR][1000 genomes]
rs504456	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505412	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505642	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs512316	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515778	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519911	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527279	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541954	1.00[AMR][1000 genomes]
rs547282	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547892	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549228	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551652	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555527	1.00[AMR][1000 genomes]
rs560105	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561199	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561869	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567414	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568423	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571368	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572697	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577301	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581247	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591196	0.82[AFR][1000 genomes]
rs693382	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7947668	0.86[AFR][1000 genomes]
rs948477	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65839000-65849800	Weak transcription	Psoas Muscle	Psoas
2	chr11:65839200-65843800	Weak transcription	Esophagus	oesophagus
3	chr11:65839200-65843800	Weak transcription	Pancreas	Pancrea
4	chr11:65839200-65844200	Weak transcription	Aorta	Aorta
5	chr11:65839200-65846800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:65839200-65847600	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:65839200-65847800	Weak transcription	Colonic Mucosa	Colon
8	chr11:65839400-65847200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:65839400-65847200	Weak transcription	Right Atrium	heart
10	chr11:65839400-65847600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:65839400-65847600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:65839400-65847600	Weak transcription	Small Intestine	intestine
13	chr11:65839400-65847800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:65839400-65848800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:65839400-65850400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:65839400-65850400	Weak transcription	Fetal Intestine Large	intestine
17	chr11:65839400-65850800	Weak transcription	Liver	Liver
18	chr11:65839400-65850800	Weak transcription	Fetal Kidney	kidney
19	chr11:65839400-65850800	Weak transcription	Right Ventricle	heart
20	chr11:65839600-65844000	Weak transcription	HMEC	breast
21	chr11:65839600-65850400	Weak transcription	Brain Substantia Nigra	brain
22	chr11:65839600-65854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:65839800-65845200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:65840000-65843600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:65840000-65844200	Weak transcription	NHDF-Ad	bronchial
26	chr11:65840000-65844800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr11:65840000-65846600	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:65840000-65847400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:65840000-65847600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:65840000-65847600	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:65840200-65843200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:65840200-65844000	Weak transcription	Thymus	Thymus
33	chr11:65840200-65844200	Weak transcription	NHLF	lung
34	chr11:65840200-65846200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr11:65840200-65848000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:65840200-65848200	Strong transcription	Fetal Stomach	stomach
37	chr11:65840400-65842800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:65840400-65842800	Strong transcription	Left Ventricle	heart
39	chr11:65840400-65843000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:65840400-65843200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:65840400-65844000	Weak transcription	Gastric	stomach
42	chr11:65840400-65844400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:65840400-65844600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:65840400-65845000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:65840400-65845400	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr11:65840400-65847600	Weak transcription	HUVEC	blood vessel
47	chr11:65840600-65842600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:65840600-65842800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:65840600-65843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:65840600-65843600	Weak transcription	Fetal Heart	heart

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