Variant report

Variant	rs73466394
Chromosome Location	chr11:45838255-45838256
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45836782..45839612-chr11:45867458..45870636,4	MCF-7	breast:
2	chr11:45837750..45841192-chr11:45868831..45870857,3	MCF-7	breast:
3	chr11:45837232..45839934-chr11:45842707..45845074,2	K562	blood:
4	chr11:45838111..45839988-chr11:45841700..45845472,4	K562	blood:

Variant related genes	Relation type
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10838518	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10838523	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12281069	0.85[AMR][1000 genomes]
rs12281674	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12284956	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2037311	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4756038	0.85[AMR][1000 genomes]
rs60935266	0.81[ASN][1000 genomes]
rs7127456	0.86[ASN][1000 genomes]
rs73468311	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9300053	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45832000-45838600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:45832200-45839600	Weak transcription	Fetal Heart	heart
3	chr11:45833600-45848000	Weak transcription	Right Ventricle	heart
4	chr11:45833800-45838600	Weak transcription	Primary B cells from cord blood	blood
5	chr11:45833800-45841800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:45833800-45845400	Weak transcription	Ovary	ovary
7	chr11:45833800-45850000	Weak transcription	Brain Angular Gyrus	brain
8	chr11:45834000-45845400	Weak transcription	Fetal Intestine Large	intestine
9	chr11:45834000-45845400	Weak transcription	Left Ventricle	heart
10	chr11:45834200-45838800	Weak transcription	Colonic Mucosa	Colon
11	chr11:45834200-45839000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:45834200-45839000	Weak transcription	Spleen	Spleen
13	chr11:45834200-45839200	Weak transcription	Adipose Nuclei	Adipose
14	chr11:45834400-45839200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:45834400-45845000	Weak transcription	Fetal Lung	lung
16	chr11:45834400-45845400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:45834400-45845600	Weak transcription	Gastric	stomach
18	chr11:45834600-45839600	Weak transcription	Placenta	Placenta
19	chr11:45834600-45845400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:45834600-45845400	Weak transcription	Lung	lung
21	chr11:45835000-45843200	Weak transcription	K562	blood
22	chr11:45835000-45844600	Weak transcription	Fetal Intestine Small	intestine
23	chr11:45835000-45845400	Weak transcription	Dnd41	blood
24	chr11:45835200-45838400	Weak transcription	Fetal Stomach	stomach
25	chr11:45837200-45838400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:45837200-45838400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:45837200-45838400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr11:45837200-45838400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:45837200-45839000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr11:45837200-45839600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:45837400-45838400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:45837400-45838600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr11:45837600-45845400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:45837600-45845400	Weak transcription	Fetal Kidney	kidney
35	chr11:45837600-45848200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:45838000-45845400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:45838200-45838400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr11:45838200-45838400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:45838200-45838400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:45838200-45838400	Enhancers	Liver	Liver
41	chr11:45838200-45838400	Enhancers	Esophagus	oesophagus
42	chr11:45838200-45838400	Enhancers	Fetal Brain Female	brain
43	chr11:45838200-45838400	Enhancers	Fetal Muscle Leg	muscle
44	chr11:45838200-45838400	Enhancers	Pancreas	Pancrea
45	chr11:45838200-45838600	Enhancers	Brain Germinal Matrix	brain
46	chr11:45838200-45839800	Enhancers	GM12878-XiMat	blood
47	chr11:45838200-45841200	Enhancers	Primary B cells from peripheral blood	blood

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