Variant report

Variant	rs7108186
Chromosome Location	chr11:45965129-45965130
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45963701..45965937-chr11:46018859..46021293,2	K562	blood:
2	chr11:45957196..45959472-chr11:45964633..45967453,2	MCF-7	breast:
3	chr11:45960690..45965572-chr11:45966148..45971451,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10742774	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs10769176	0.85[CEU][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap]
rs10769179	0.82[ASN][1000 genomes]
rs10838533	0.95[CEU][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10838535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11038720	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11038723	0.93[ASN][1000 genomes]
rs11038745	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1125290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1125291	0.84[ASN][1000 genomes]
rs1996573	0.82[CEU][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs2860404	0.87[CHD][hapmap];0.87[JPT][hapmap]
rs2945997	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2945999	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2946001	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2946003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2946004	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2959084	0.87[JPT][hapmap]
rs2959087	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2959091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2959098	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2959099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2959101	0.89[CHD][hapmap];0.80[MEX][hapmap]
rs2959102	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4073513	0.84[CHD][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap]
rs4144718	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4237660	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4756044	0.82[CEU][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs4756051	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs4756055	0.87[JPT][hapmap]
rs6485654	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7108028	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128184	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs7130281	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7926314	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7935308	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7948502	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs7950336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7950391	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs884668	0.81[CEU][hapmap]
rs939107	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.92[ASN][1000 genomes]
rs950105	0.87[JPT][hapmap]
rs953230	0.81[CHD][hapmap];0.87[MEX][hapmap]

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	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7108186	PHF21A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45945200-45969400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:45952000-45967000	Weak transcription	Fetal Kidney	kidney
3	chr11:45952400-45996200	Weak transcription	Stomach Mucosa	stomach
4	chr11:45953000-45988600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:45953200-45972600	Strong transcription	Fetal Intestine Large	intestine
6	chr11:45953200-45975400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:45954000-45978800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:45954200-45969800	Weak transcription	HUVEC	blood vessel
9	chr11:45957000-45965600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:45957000-45966800	Weak transcription	NHLF	lung
11	chr11:45957200-45965400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:45957200-45966600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:45957200-45967000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:45957200-45969400	Weak transcription	Colonic Mucosa	Colon
15	chr11:45957200-46004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:45957200-46004400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:45957600-45966600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:45957600-45966600	Weak transcription	K562	blood
19	chr11:45957600-45970600	Weak transcription	Small Intestine	intestine
20	chr11:45957600-45986400	Weak transcription	HMEC	breast
21	chr11:45957800-45969000	Weak transcription	Pancreas	Pancrea
22	chr11:45957800-45986400	Weak transcription	NHEK	skin
23	chr11:45958000-45967200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:45958200-45966000	Weak transcription	Brain Angular Gyrus	brain
25	chr11:45958200-45966800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:45958200-45967000	Weak transcription	HSMM	muscle
27	chr11:45958200-45967200	Weak transcription	NH-A	brain
28	chr11:45958400-45966000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:45958600-45965400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:45958600-45966400	Weak transcription	Fetal Brain Male	brain
31	chr11:45958600-45967000	Weak transcription	HepG2	liver
32	chr11:45958600-45967200	Weak transcription	Psoas Muscle	Psoas
33	chr11:45958600-45979000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:45958800-45965200	Weak transcription	Fetal Heart	heart
35	chr11:45958800-45966600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:45958800-45966800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:45958800-45967000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:45958800-45967000	Weak transcription	Hela-S3	cervix
39	chr11:45958800-45979000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:45959000-45966400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:45959600-45967000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:45959800-45965200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:45959800-45965400	Weak transcription	Right Ventricle	heart
44	chr11:45959800-45966000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:45959800-45966000	Weak transcription	Fetal Intestine Small	intestine
46	chr11:45959800-45966000	Weak transcription	Thymus	Thymus
47	chr11:45959800-45966600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:45959800-45966800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr11:45959800-45969000	Weak transcription	Gastric	stomach
50	chr11:45960000-45965200	Weak transcription	Fetal Lung	lung

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