Variant report

Variant	rs4754222
Chromosome Location	chr11:107318332-107318333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107316050..107321391-chr11:107326122..107330331,6	K562	blood:
2	chr11:107316142..107319127-chr11:107320782..107322583,2	K562	blood:
3	chr11:107317031..107320685-chr11:107326705..107328538,3	K562	blood:
4	chr11:107285740..107288014-chr11:107318312..107321068,2	K562	blood:
5	chr11:107317620..107320783-chr11:107322990..107325407,3	K562	blood:

Variant related genes	Relation type
ENSG00000152404	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10400259	0.91[ASN][1000 genomes]
rs10890721	0.81[YRI][hapmap]
rs11212182	0.88[YRI][hapmap]
rs11212206	0.88[YRI][hapmap]
rs1242141	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17106875	0.90[YRI][hapmap]
rs2432864	0.81[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs472626	0.86[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs474290	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs477991	0.86[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes]
rs487984	0.80[EUR][1000 genomes]
rs500616	0.86[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs503045	0.80[EUR][1000 genomes]
rs510279	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs510305	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs517240	0.80[EUR][1000 genomes]
rs520203	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs520729	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs542041	0.80[EUR][1000 genomes]
rs555566	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs565344	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs573449	0.81[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs580431	0.81[EUR][1000 genomes]
rs582646	0.80[EUR][1000 genomes]
rs587618	0.91[JPT][hapmap]
rs588921	0.90[YRI][hapmap]
rs590699	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs594876	0.81[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs596048	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs614594	0.81[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs620347	0.80[EUR][1000 genomes]
rs628970	0.86[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs630782	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs631063	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs6421541	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs654129	0.82[CEU][hapmap];0.91[JPT][hapmap]
rs657958	0.86[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs660962	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs670949	0.91[JPT][hapmap]
rs687991	0.82[AFR][1000 genomes]
rs7926163	0.91[CHB][hapmap];1.00[JPT][hapmap]

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	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv832261	chr11:107145901-107321562	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2756363	chr11:107189790-107376790	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv898375	chr11:107299631-107365191	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv898377	chr11:107316499-107354312	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
2	chr11:107252600-107323800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:107255000-107327600	Weak transcription	Fetal Heart	heart
4	chr11:107256600-107327600	Weak transcription	NHDF-Ad	bronchial
5	chr11:107258800-107324200	Weak transcription	Small Intestine	intestine
6	chr11:107259600-107323400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:107262200-107324000	Weak transcription	Pancreas	Pancrea
8	chr11:107268600-107323400	Weak transcription	Gastric	stomach
9	chr11:107269000-107324600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:107274600-107323400	Weak transcription	Esophagus	oesophagus
11	chr11:107286600-107322800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:107291400-107324000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:107292800-107327600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:107296400-107323600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:107296800-107325600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:107297200-107324400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:107298200-107327400	Weak transcription	A549	lung
18	chr11:107300200-107323200	Weak transcription	HSMM	muscle
19	chr11:107300400-107324200	Weak transcription	NHLF	lung
20	chr11:107300400-107326800	Weak transcription	Hela-S3	cervix
21	chr11:107301000-107326800	Weak transcription	HMEC	breast
22	chr11:107305000-107319600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:107307000-107318800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:107307000-107319400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:107307400-107323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:107307400-107323400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:107307600-107323200	Weak transcription	Osteobl	bone
28	chr11:107307800-107323400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:107307800-107323400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:107307800-107326800	Weak transcription	Fetal Brain Male	brain
31	chr11:107308000-107319600	Strong transcription	Adipose Nuclei	Adipose
32	chr11:107308200-107318400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:107308200-107319600	Strong transcription	Primary T cells from cord blood	blood
34	chr11:107308200-107319600	Strong transcription	Fetal Thymus	thymus
35	chr11:107308400-107319600	Strong transcription	Primary B cells from cord blood	blood
36	chr11:107308400-107319600	Strong transcription	Liver	Liver
37	chr11:107308800-107318800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:107309200-107324000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:107309400-107320200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:107309800-107323400	Weak transcription	Left Ventricle	heart
41	chr11:107310000-107318400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr11:107310400-107323400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:107310800-107323200	Weak transcription	Brain Anterior Caudate	brain
44	chr11:107310800-107323400	Weak transcription	Fetal Intestine Small	intestine
45	chr11:107310800-107323400	Weak transcription	Spleen	Spleen
46	chr11:107310800-107323800	Weak transcription	Colonic Mucosa	Colon
47	chr11:107310800-107324000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:107311000-107323600	Weak transcription	HUVEC	blood vessel
49	chr11:107311000-107327400	Weak transcription	Psoas Muscle	Psoas
50	chr11:107311800-107319200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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