Variant report

Variant	rs11088346
Chromosome Location	chr21:37775849-37775850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37760125..37762264-chr21:37772502..37776396,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224421	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1906484	1.00[EUR][1000 genomes]
rs219784	1.00[CHD][hapmap]
rs2244034	1.00[CHD][hapmap]
rs2835342	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs57452600	1.00[EUR][1000 genomes]
rs73902504	1.00[EUR][1000 genomes]
rs73902505	1.00[EUR][1000 genomes]
rs73902506	1.00[EUR][1000 genomes]
rs73905811	0.92[EUR][1000 genomes]
rs8596	1.00[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11088346	CBR1	cis	lymphoblastoid	seeQTL
rs11088346	SIRPG	trans	lymphoblastoid	seeQTL
rs11088346	GRAP2	trans	lymphoblastoid	seeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37758400-37788000	Weak transcription	Colonic Mucosa	Colon
2	chr21:37758400-37792200	Weak transcription	Fetal Kidney	kidney
3	chr21:37758400-37793400	Weak transcription	Aorta	Aorta
4	chr21:37758400-37794600	Weak transcription	Left Ventricle	heart
5	chr21:37758400-37794800	Weak transcription	Right Ventricle	heart
6	chr21:37758600-37777400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr21:37758600-37777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr21:37758600-37780400	Weak transcription	HUVEC	blood vessel
9	chr21:37758600-37783600	Weak transcription	Brain Germinal Matrix	brain
10	chr21:37758600-37783800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr21:37758600-37783800	Weak transcription	Spleen	Spleen
12	chr21:37758600-37785000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr21:37758600-37785000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr21:37758600-37785600	Weak transcription	Adipose Nuclei	Adipose
15	chr21:37758600-37787400	Weak transcription	Primary B cells from cord blood	blood
16	chr21:37758600-37790600	Weak transcription	Brain Anterior Caudate	brain
17	chr21:37758600-37790800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr21:37758600-37791000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr21:37758600-37793400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr21:37758600-37794200	Weak transcription	Liver	Liver
21	chr21:37758600-37797600	Weak transcription	HSMM	muscle
22	chr21:37758800-37780400	Weak transcription	Fetal Lung	lung
23	chr21:37758800-37785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr21:37758800-37785200	Weak transcription	Pancreas	Pancrea
25	chr21:37758800-37785400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr21:37758800-37795000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr21:37759000-37780400	Weak transcription	Hela-S3	cervix
28	chr21:37761600-37779200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:37761600-37790600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr21:37761600-37792200	Weak transcription	Brain Angular Gyrus	brain
31	chr21:37761600-37792400	Weak transcription	Brain Hippocampus Middle	brain
32	chr21:37762600-37776400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr21:37762800-37790200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:37763000-37785000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr21:37765400-37776400	Strong transcription	Dnd41	blood
36	chr21:37765400-37776600	Strong transcription	Fetal Stomach	stomach
37	chr21:37765400-37778400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr21:37765600-37776400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr21:37765800-37783600	Weak transcription	Fetal Intestine Large	intestine
40	chr21:37766000-37776400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr21:37766000-37779400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr21:37766000-37793000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:37766400-37776400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr21:37766600-37776400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr21:37766600-37778400	Strong transcription	Fetal Thymus	thymus
46	chr21:37766800-37776400	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr21:37766800-37794800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr21:37767000-37776400	Strong transcription	Thymus	Thymus
49	chr21:37768400-37794000	Weak transcription	Psoas Muscle	Psoas
50	chr21:37769400-37790000	Weak transcription	Rectal Mucosa Donor 31	rectum

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