Variant report

Variant	rs7938194
Chromosome Location	chr11:100574423-100574424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:100568090..100569929-chr11:100572714..100575378,2	K562	blood:
2	chr11:100572186..100576891-chr11:100577212..100582254,4	K562	blood:
3	chr11:100567119..100569590-chr11:100572714..100575535,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10128687	0.86[ASN][1000 genomes]
rs10431108	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10895009	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10895011	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11224403	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11224417	0.84[ASN][1000 genomes]
rs1216743	0.97[ASN][1000 genomes]
rs12269905	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12286062	0.85[ASN][1000 genomes]
rs12288075	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12291493	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1502284	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1847149	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1847150	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2055449	0.90[ASN][1000 genomes]
rs2055450	0.92[ASN][1000 genomes]
rs2298609	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4312035	0.85[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs4753980	0.87[ASN][1000 genomes]
rs4753984	0.86[ASN][1000 genomes]
rs4754692	0.87[ASN][1000 genomes]
rs4754695	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4754697	0.85[ASN][1000 genomes]
rs4754698	0.80[ASN][1000 genomes]
rs486023	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs492237	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs604723	0.85[ASN][1000 genomes]
rs607562	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs633185	0.86[ASN][1000 genomes]
rs653320	0.96[ASN][1000 genomes]
rs6590805	0.88[ASN][1000 genomes]
rs6590810	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6590811	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6590812	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6590813	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6590814	0.89[ASN][1000 genomes]
rs6590817	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs667575	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs670401	0.96[ASN][1000 genomes]
rs7103397	0.86[ASN][1000 genomes]
rs7105451	0.86[ASN][1000 genomes]
rs7106603	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7112041	0.86[ASN][1000 genomes]
rs7114867	0.86[ASN][1000 genomes]
rs7125452	0.80[ASN][1000 genomes]
rs7130275	0.86[ASN][1000 genomes]
rs7926526	0.89[ASN][1000 genomes]
rs7928576	0.85[ASN][1000 genomes]
rs7928871	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7930157	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7938601	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7952055	0.85[ASN][1000 genomes]
rs9919648	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv556122	chr11:99893282-100585889	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	8 gene(s)	inside rSNPs	diseases
11	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv898327	chr11:100569021-100631075	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100559800-100574600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:100559800-100580000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:100559800-100580000	Weak transcription	HSMM	muscle
4	chr11:100560200-100576400	Weak transcription	Primary B cells from cord blood	blood
5	chr11:100560200-100580000	Weak transcription	NH-A	brain
6	chr11:100560200-100580600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:100560800-100574600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:100560800-100578400	Weak transcription	Pancreas	Pancrea
9	chr11:100560800-100580200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:100561000-100574600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:100561000-100574800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:100561000-100578400	Weak transcription	Ovary	ovary
13	chr11:100561000-100590200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:100561000-100590600	Weak transcription	Lung	lung
15	chr11:100563400-100574600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:100563600-100575000	Weak transcription	HMEC	breast
17	chr11:100563600-100578400	Weak transcription	Gastric	stomach
18	chr11:100563600-100579800	Weak transcription	Liver	Liver
19	chr11:100563800-100579800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:100563800-100585800	Weak transcription	Adipose Nuclei	Adipose
21	chr11:100564000-100583200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:100564200-100575000	Weak transcription	Fetal Heart	heart
23	chr11:100564400-100586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:100565400-100578400	Weak transcription	Left Ventricle	heart
25	chr11:100565800-100585200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:100566000-100574600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:100566800-100590000	Weak transcription	Fetal Stomach	stomach
28	chr11:100567200-100583600	Weak transcription	Fetal Intestine Small	intestine
29	chr11:100567600-100583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:100570200-100574800	Weak transcription	HSMMtube	muscle
31	chr11:100571200-100576600	Weak transcription	NHLF	lung
32	chr11:100571600-100574600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:100572000-100579600	Weak transcription	A549	lung
34	chr11:100572200-100574600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:100572200-100574800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:100572200-100579800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:100572400-100574600	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:100572400-100580000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:100572400-100580000	Weak transcription	Fetal Lung	lung
40	chr11:100572400-100582800	Weak transcription	Fetal Intestine Large	intestine
41	chr11:100572400-100583200	Weak transcription	Stomach Mucosa	stomach
42	chr11:100572400-100590000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:100572400-100590200	Weak transcription	Placenta	Placenta
44	chr11:100573200-100576000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:100573800-100575400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:100574000-100574600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:100574200-100575000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:100574400-100574800	Enhancers	Brain Cingulate Gyrus	brain
49	chr11:100574400-100575200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr11:100574400-100575400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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