Variant report

Variant	rs4942835
Chromosome Location	chr13:50090844-50090845
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50085860..50087945-chr13:50089850..50091816,2	MCF-7	breast:
2	chr13:50086064..50088335-chr13:50090580..50092913,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2031532	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2057413	0.84[ASN][1000 genomes]
rs2147985	0.89[EUR][1000 genomes]
rs2407692	0.80[ASN][1000 genomes]
rs2407693	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4142285	0.84[ASN][1000 genomes]
rs4417458	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6561525	0.84[ASN][1000 genomes]
rs6561527	0.88[ASN][1000 genomes]
rs6561528	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6561529	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6561531	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7319587	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7321228	0.84[ASN][1000 genomes]
rs7324622	0.88[ASN][1000 genomes]
rs7328782	0.84[ASN][1000 genomes]
rs7329078	0.81[EUR][1000 genomes]
rs7337488	0.88[ASN][1000 genomes]
rs7996852	0.84[ASN][1000 genomes]
rs8000149	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526564	0.84[ASN][1000 genomes]
rs959421	0.87[ASN][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	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	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
3	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
4	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
rs4942835	PHF11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50070800-50095600	Weak transcription	Fetal Kidney	kidney
2	chr13:50071000-50093400	Weak transcription	HepG2	liver
3	chr13:50074000-50093000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:50075000-50102400	Weak transcription	NH-A	brain
5	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
6	chr13:50077600-50114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:50080000-50092000	Weak transcription	NHDF-Ad	bronchial
8	chr13:50080000-50107000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:50080200-50104600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr13:50080600-50098000	Strong transcription	Primary B cells from cord blood	blood
11	chr13:50080600-50101000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr13:50080600-50104600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr13:50082200-50096200	Weak transcription	HUVEC	blood vessel
14	chr13:50083600-50103600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr13:50083800-50099600	Strong transcription	Primary T cells from cord blood	blood
16	chr13:50084000-50091600	Strong transcription	Adipose Nuclei	Adipose
17	chr13:50084000-50104800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr13:50084800-50104200	Strong transcription	GM12878-XiMat	blood
19	chr13:50085000-50098200	Strong transcription	Dnd41	blood
20	chr13:50085000-50099600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:50085400-50104800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr13:50085800-50099000	Weak transcription	Hela-S3	cervix
23	chr13:50086400-50096200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr13:50086400-50097200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:50086400-50113600	Weak transcription	Brain Angular Gyrus	brain
26	chr13:50086600-50091400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:50086600-50098400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr13:50086600-50101600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr13:50086600-50103200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr13:50086600-50106200	Strong transcription	Fetal Thymus	thymus
31	chr13:50086600-50108800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:50086600-50114200	Weak transcription	Fetal Brain Female	brain
33	chr13:50086800-50091200	Strong transcription	Fetal Stomach	stomach
34	chr13:50086800-50091600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:50086800-50091600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:50086800-50091800	Strong transcription	Fetal Intestine Large	intestine
37	chr13:50086800-50091800	Strong transcription	Fetal Muscle Leg	muscle
38	chr13:50086800-50091800	Strong transcription	Thymus	Thymus
39	chr13:50086800-50093600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr13:50086800-50096200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:50086800-50101600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr13:50087200-50091600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr13:50087200-50092200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr13:50087400-50099400	Strong transcription	Liver	Liver
45	chr13:50087400-50099400	Strong transcription	Placenta	Placenta
46	chr13:50087600-50091000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr13:50087600-50092000	Strong transcription	Fetal Intestine Small	intestine
48	chr13:50087600-50095800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr13:50087800-50091000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr13:50087800-50091400	Strong transcription	Lung	lung

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