Variant report

Variant	rs12360620
Chromosome Location	chr11:75024372-75024373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:75024337-75024953	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75024014..75025553-chr11:75034612..75037576,2	MCF-7	breast:
2	chr11:75013016..75016949-chr11:75020139..75024522,5	K562	blood:
3	chr11:75023638..75026510-chr11:75060913..75062993,2	K562	blood:

Variant related genes	Relation type
ARRB1	TF binding region
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11236388	0.81[EUR][1000 genomes]
rs11236389	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11236390	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74998800-75041400	Weak transcription	Brain Germinal Matrix	brain
2	chr11:75000200-75037600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr11:75000400-75033000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:75005200-75026000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr11:75005200-75026400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:75005200-75033000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:75010600-75025000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:75012200-75026600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:75012600-75024800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:75013800-75025200	Weak transcription	Liver	Liver
11	chr11:75015000-75025000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:75017000-75025600	Genic enhancers	Fetal Stomach	stomach
13	chr11:75017000-75028400	Weak transcription	Fetal Brain Male	brain
14	chr11:75017600-75024800	Strong transcription	Primary T cells from cord blood	blood
15	chr11:75018200-75034800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:75018400-75024800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:75019000-75026400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:75020200-75024400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:75021000-75025600	Weak transcription	Thymus	Thymus
20	chr11:75021000-75037600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:75021200-75027000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:75021600-75025400	Genic enhancers	Fetal Intestine Small	intestine
23	chr11:75021600-75025600	Enhancers	Fetal Heart	heart
24	chr11:75021600-75026600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:75021600-75026600	Enhancers	Stomach Mucosa	stomach
26	chr11:75021800-75025600	Enhancers	Colon Smooth Muscle	Colon
27	chr11:75021800-75026600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:75022000-75026200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:75022200-75026400	Enhancers	Duodenum Mucosa	Duodenum
30	chr11:75022600-75024400	Enhancers	Small Intestine	intestine
31	chr11:75022600-75025000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:75022800-75027000	Enhancers	HUVEC	blood vessel
33	chr11:75023000-75024600	Weak transcription	Fetal Kidney	kidney
34	chr11:75023000-75025400	Enhancers	Fetal Intestine Large	intestine
35	chr11:75023200-75025000	Weak transcription	Right Ventricle	heart
36	chr11:75023200-75025200	Enhancers	Fetal Muscle Trunk	muscle
37	chr11:75023200-75025400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:75023200-75025400	Enhancers	HSMM	muscle
39	chr11:75023200-75025600	Enhancers	Colonic Mucosa	Colon
40	chr11:75023200-75025600	Enhancers	Fetal Muscle Leg	muscle
41	chr11:75023200-75025600	Enhancers	Left Ventricle	heart
42	chr11:75023200-75025600	Enhancers	Rectal Smooth Muscle	rectum
43	chr11:75023200-75025600	Enhancers	NHDF-Ad	bronchial
44	chr11:75023200-75028200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:75023200-75028600	Weak transcription	Psoas Muscle	Psoas
46	chr11:75023200-75031200	Weak transcription	Fetal Brain Female	brain
47	chr11:75023400-75024400	Weak transcription	Ovary	ovary
48	chr11:75023400-75024400	Enhancers	Osteobl	bone
49	chr11:75023400-75024600	Enhancers	K562	blood
50	chr11:75023400-75025000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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