Variant report

Variant	rs7938496
Chromosome Location	chr11:71695678-71695679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71638884..71640864-chr11:71694581..71697460,2	K562	blood:
2	chr11:71695031..71697294-chr11:71704029..71706550,2	K562	blood:

Variant related genes	Relation type
ENSG00000137522	Chromatin interaction
ENSG00000254469	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10450664	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10501408	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1057992	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10736780	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10736783	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10751188	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10751191	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10751192	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10793011	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10793013	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10793014	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10793015	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10898812	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1541304	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1548348	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1573501	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1573503	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17161751	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1892920	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1894004	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1939241	0.85[AMR][1000 genomes]
rs2155142	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2155145	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2155146	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2276384	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2503	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2735787	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2845860	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2852365	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3829215	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4245463	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4269951	0.82[ASN][1000 genomes]
rs4399349	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4477459	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944243	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4945378	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4945382	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4945391	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4945392	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56255748	0.89[ASN][1000 genomes]
rs6592447	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6592456	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592457	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7101553	0.85[EUR][1000 genomes]
rs7102523	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7106653	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7106730	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7113436	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7113520	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7115513	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7121080	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7126394	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73531955	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7924834	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7937408	0.80[AMR][1000 genomes]
rs7942626	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7951564	0.86[ASN][1000 genomes]
rs949323	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs949326	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9666346	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS 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	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7938496	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71660400-71701200	Weak transcription	Gastric	stomach
2	chr11:71660800-71709400	Weak transcription	Stomach Mucosa	stomach
3	chr11:71661000-71709600	Weak transcription	Small Intestine	intestine
4	chr11:71663000-71698000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:71668800-71699000	Weak transcription	Right Ventricle	heart
6	chr11:71670600-71701000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:71672200-71698800	Weak transcription	NHEK	skin
8	chr11:71672200-71701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
10	chr11:71672400-71701000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:71672400-71709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:71672600-71698400	Weak transcription	Spleen	Spleen
13	chr11:71672600-71709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:71673000-71697000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:71673000-71698800	Weak transcription	Ovary	ovary
16	chr11:71673000-71701200	Weak transcription	Pancreas	Pancrea
17	chr11:71673600-71698800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:71673600-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:71673800-71698000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:71673800-71698400	Weak transcription	NHLF	lung
21	chr11:71673800-71701200	Weak transcription	Colonic Mucosa	Colon
22	chr11:71673800-71701800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:71673800-71707800	Weak transcription	Fetal Heart	heart
24	chr11:71674000-71710600	Weak transcription	Brain Germinal Matrix	brain
25	chr11:71674200-71697400	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:71675000-71701200	Weak transcription	Fetal Brain Female	brain
27	chr11:71677000-71709400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:71678000-71710600	Weak transcription	HMEC	breast
30	chr11:71681000-71698000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:71681200-71709400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:71681600-71698600	Weak transcription	Placenta	Placenta
33	chr11:71681600-71698800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:71682000-71696200	Weak transcription	Fetal Kidney	kidney
35	chr11:71684000-71697800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:71684200-71709000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:71685800-71698600	Strong transcription	K562	blood
38	chr11:71687000-71698400	Weak transcription	NHDF-Ad	bronchial
39	chr11:71687800-71703000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:71688600-71703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:71688800-71698200	Strong transcription	A549	lung
42	chr11:71689000-71701200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:71689000-71711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:71689400-71697200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:71689600-71702400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:71690000-71696600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:71690200-71699600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:71690600-71696200	Weak transcription	Primary B cells from cord blood	blood
49	chr11:71691200-71697000	Strong transcription	Fetal Intestine Small	intestine
50	chr11:71691200-71697000	Weak transcription	Hela-S3	cervix

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