Variant report

Variant	rs331473
Chromosome Location	chr11:36473977-36473978
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	chr11:36473798-36474166	U87	brain:	n/a	n/a
2	TCF12	chr11:36473728-36474225	SK-N-SH	brain:	n/a	chr11:36473957-36473964 chr11:36473953-36473963 chr11:36473955-36473962
3	TCF12	chr11:36473671-36474955	SK-N-SH	brain:	n/a	chr11:36473957-36473964 chr11:36473953-36473963 chr11:36473955-36473962
4	POLR2A	chr11:36473659-36474301	HL-60	blood:	n/a	n/a
5	GATA3	chr11:36473640-36474903	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr11:36473660-36475003	SK-N-SH	brain:	n/a	chr11:36474943-36474952
7	POLR2A	chr11:36473733-36474295	HL-60	blood:	n/a	n/a
8	FOXP2	chr11:36473851-36474091	SK-N-MC	brain:	n/a	n/a
9	SPI1	chr11:36473687-36474352	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:36469566..36471413-chr11:36472825..36475082,2	MCF-7	breast:
2	chr11:36472925..36474426-chr3:25827190..25829497,2	K562	blood:
3	chr11:36471715..36474622-chr11:36475747..36477445,2	MCF-7	breast:
4	chr11:36472788..36474841-chr11:36478990..36481077,2	MCF-7	breast:

Variant related genes	Relation type
PRR5L	TF binding region
ENSG00000135362	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1515062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2173394	1.00[EUR][1000 genomes]
rs230485	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2458930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2673017	1.00[EUR][1000 genomes]
rs2673018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331449	1.00[AMR][1000 genomes]
rs331451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331475	1.00[AMR][1000 genomes]
rs34340782	1.00[EUR][1000 genomes]
rs34574486	1.00[EUR][1000 genomes]
rs34608958	1.00[EUR][1000 genomes]
rs496289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs505296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs510479	0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs520074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60287310	1.00[EUR][1000 genomes]
rs6484862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs692743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs693068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109588	1.00[EUR][1000 genomes]
rs7125448	1.00[AMR][1000 genomes];1.00[EUR][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1046452	chr11:36460958-36503079	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv518499	chr11:36466814-36479789	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:36449600-36474000	Weak transcription	Right Ventricle	heart
4	chr11:36463000-36474000	Weak transcription	Fetal Kidney	kidney
5	chr11:36464400-36478800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:36467800-36478800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:36469200-36474000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:36469200-36475600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:36469200-36475600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:36469200-36480200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:36469400-36475800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:36469800-36475000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:36470000-36475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:36470200-36476600	Weak transcription	Psoas Muscle	Psoas
15	chr11:36470400-36474800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:36470400-36477800	Genic enhancers	Fetal Intestine Small	intestine
17	chr11:36470600-36482800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:36470800-36474800	Weak transcription	HMEC	breast
19	chr11:36470800-36478000	Genic enhancers	Fetal Intestine Large	intestine
20	chr11:36471000-36474000	Enhancers	Brain Anterior Caudate	brain
21	chr11:36471000-36474600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr11:36471000-36475400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:36471000-36476400	Enhancers	Fetal Thymus	thymus
24	chr11:36471000-36476400	Genic enhancers	Rectal Mucosa Donor 29	rectum
25	chr11:36471200-36475400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr11:36471200-36475800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:36471200-36478000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:36471400-36474400	Genic enhancers	Colonic Mucosa	Colon
29	chr11:36471400-36475600	Enhancers	Brain Angular Gyrus	brain
30	chr11:36471400-36475800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:36471600-36475800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:36471600-36478400	Genic enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:36471800-36474000	Weak transcription	Aorta	Aorta
34	chr11:36471800-36475400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr11:36471800-36506800	Weak transcription	Gastric	stomach
36	chr11:36471800-36506800	Weak transcription	Pancreas	Pancrea
37	chr11:36472000-36474000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:36472000-36474000	Weak transcription	A549	lung
39	chr11:36472000-36475400	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:36472000-36475400	Weak transcription	NHDF-Ad	bronchial
41	chr11:36472000-36475600	Weak transcription	NHLF	lung
42	chr11:36472000-36475800	Enhancers	Thymus	Thymus
43	chr11:36472000-36476400	Weak transcription	Fetal Brain Female	brain
44	chr11:36472000-36477800	Enhancers	Fetal Lung	lung
45	chr11:36472200-36474200	Weak transcription	Hela-S3	cervix
46	chr11:36472200-36475000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:36472200-36475400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr11:36472200-36475600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:36472200-36475600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr11:36472200-36475800	Enhancers	Primary T cells from cord blood	blood

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