Variant report

Variant	rs11050179
Chromosome Location	chr12:29464355-29464356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:29462295..29464942-chr12:29467954..29469867,2	K562	blood:
2	chr12:29458406..29460957-chr12:29462899..29465425,2	K562	blood:
3	chr12:29462295..29465782-chr12:29467175..29469867,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10843354	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10843355	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10843356	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10843364	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10843374	0.82[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10843379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10843380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10843381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10843386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10843389	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10843392	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10843394	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11050178	1.00[ASN][1000 genomes]
rs11050180	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11050204	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11050206	0.86[ASN][1000 genomes]
rs11050207	0.80[ASN][1000 genomes]
rs12228116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12229024	1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299290	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12303490	1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304963	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306862	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307403	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12308135	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12310050	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12311282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16934213	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1836861	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs28825120	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7305232	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7965795	1.00[GIH][hapmap]
rs9651841	0.80[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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1795347	chr12:29458556-29471835	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29417200-29465400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:29422000-29465000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:29426800-29472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
5	chr12:29435400-29467200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:29439600-29469400	Weak transcription	NH-A	brain
7	chr12:29446200-29465000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:29449600-29470800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:29452800-29465200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:29452800-29494200	Weak transcription	Lung	lung
11	chr12:29453000-29465200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:29453000-29472800	Weak transcription	Fetal Intestine Large	intestine
13	chr12:29453800-29480000	Weak transcription	Gastric	stomach
14	chr12:29454600-29475800	Weak transcription	Spleen	Spleen
15	chr12:29455200-29489400	Weak transcription	Primary B cells from cord blood	blood
16	chr12:29456000-29469600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:29456600-29465800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:29456600-29471000	Weak transcription	Fetal Intestine Small	intestine
19	chr12:29457000-29465200	Weak transcription	Adipose Nuclei	Adipose
20	chr12:29457000-29467400	Weak transcription	Left Ventricle	heart
21	chr12:29457600-29470600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:29458600-29467400	Weak transcription	Brain Anterior Caudate	brain
23	chr12:29459200-29464800	Weak transcription	Dnd41	blood
24	chr12:29459400-29471400	Weak transcription	Liver	Liver
25	chr12:29459400-29493000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:29459600-29472800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:29459600-29476000	Weak transcription	Fetal Thymus	thymus
28	chr12:29459800-29465000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:29460200-29476000	Weak transcription	Fetal Stomach	stomach
30	chr12:29460400-29467200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:29460800-29470000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:29461200-29486200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:29461400-29468000	Weak transcription	Primary T cells from cord blood	blood
34	chr12:29461600-29464400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:29462400-29464600	Weak transcription	Placenta	Placenta
36	chr12:29462600-29533000	Weak transcription	Aorta	Aorta
37	chr12:29463200-29470000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:29463600-29466200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:29463600-29474600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:29463800-29466400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:29463800-29466400	Strong transcription	HUVEC	blood vessel
42	chr12:29463800-29467200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:29463800-29469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:29463800-29475400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:29464000-29464600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:29464000-29476000	Weak transcription	Fetal Kidney	kidney
47	chr12:29464200-29464400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:29464200-29468400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:29464200-29470000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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