Variant report

Variant	rs2147985
Chromosome Location	chr13:50087528-50087529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50086064..50088335-chr13:50090580..50092913,2	K562	blood:
2	chr13:50087217..50089138-chr13:50160277..50162233,2	MCF-7	breast:
3	chr13:50085860..50087945-chr13:50089850..50091816,2	MCF-7	breast:
4	chr13:50072605..50075983-chr13:50085931..50088388,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2031532	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2407693	0.83[EUR][1000 genomes]
rs4417458	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4942835	0.89[EUR][1000 genomes]
rs6561528	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6561529	0.86[EUR][1000 genomes]
rs6561531	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7319587	0.81[EUR][1000 genomes]
rs8000149	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2147985	PHF11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50070200-50089200	Weak transcription	Fetal Brain Male	brain
2	chr13:50070800-50087600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr13:50070800-50087800	Weak transcription	Aorta	Aorta
4	chr13:50070800-50087800	Weak transcription	NHEK	skin
5	chr13:50070800-50088000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr13:50070800-50088000	Weak transcription	Brain Anterior Caudate	brain
7	chr13:50070800-50088000	Weak transcription	Esophagus	oesophagus
8	chr13:50070800-50088000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr13:50070800-50088200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:50070800-50088200	Weak transcription	Brain Substantia Nigra	brain
11	chr13:50070800-50095600	Weak transcription	Fetal Kidney	kidney
12	chr13:50071000-50087800	Weak transcription	Colonic Mucosa	Colon
13	chr13:50071000-50087800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:50071000-50087800	Weak transcription	Right Ventricle	heart
15	chr13:50071000-50088000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr13:50071000-50093400	Weak transcription	HepG2	liver
17	chr13:50071800-50088000	Weak transcription	Pancreas	Pancrea
18	chr13:50074000-50093000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr13:50075000-50087800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr13:50075000-50087800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr13:50075000-50088200	Weak transcription	HMEC	breast
22	chr13:50075000-50102400	Weak transcription	NH-A	brain
23	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
24	chr13:50075200-50087800	Weak transcription	Osteobl	bone
25	chr13:50075400-50088000	Weak transcription	Colon Smooth Muscle	Colon
26	chr13:50077400-50087800	Weak transcription	Left Ventricle	heart
27	chr13:50077600-50088000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:50077600-50088000	Weak transcription	Gastric	stomach
29	chr13:50077600-50088000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr13:50077600-50088000	Weak transcription	Spleen	Spleen
31	chr13:50077600-50114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:50078600-50088000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:50080000-50087800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:50080000-50087800	Weak transcription	NHLF	lung
35	chr13:50080000-50092000	Weak transcription	NHDF-Ad	bronchial
36	chr13:50080000-50107000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr13:50080200-50087800	Weak transcription	Brain Hippocampus Middle	brain
38	chr13:50080200-50088000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr13:50080200-50104600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr13:50080400-50087800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr13:50080400-50087800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:50080400-50088000	Weak transcription	HSMMtube	muscle
43	chr13:50080600-50098000	Strong transcription	Primary B cells from cord blood	blood
44	chr13:50080600-50101000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr13:50080600-50104600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr13:50082000-50087600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr13:50082200-50087800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr13:50082200-50096200	Weak transcription	HUVEC	blood vessel
49	chr13:50083600-50103600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr13:50083800-50099600	Strong transcription	Primary T cells from cord blood	blood

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