Variant report

Variant	rs10876133
Chromosome Location	chr12:51470687-51470688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51441202..51443113-chr12:51468336..51471322,2	K562	blood:
2	chr12:51470174..51472582-chr12:51632362..51634494,2	K562	blood:
3	chr12:51468579..51474515-chr12:51475298..51478642,16	K562	blood:

Variant related genes	Relation type
ENSG00000050426	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10876135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876137	0.88[ASN][1000 genomes]
rs10876142	0.82[ASN][1000 genomes]
rs11169653	0.80[CHB][hapmap]
rs11169658	0.84[CHB][hapmap]
rs11169674	0.80[CHB][hapmap]
rs11169687	0.82[AMR][1000 genomes]
rs11169688	0.82[AMR][1000 genomes]
rs11169696	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169700	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11169706	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169720	0.85[ASN][1000 genomes]
rs11169721	0.83[ASN][1000 genomes]
rs11169722	0.85[ASN][1000 genomes]
rs11169734	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs11169735	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11169747	0.94[JPT][hapmap]
rs11610454	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12227032	0.85[ASN][1000 genomes]
rs12227973	0.84[ASN][1000 genomes]
rs12230388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12312531	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12424460	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1493382	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17125363	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17125365	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17125371	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2359189	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2436636	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2452794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2452795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2452796	0.84[ASN][1000 genomes]
rs2640512	0.84[ASN][1000 genomes]
rs2640515	0.84[ASN][1000 genomes]
rs2640518	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2640520	0.85[ASN][1000 genomes]
rs2640522	0.85[ASN][1000 genomes]
rs2640525	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2640526	0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2640528	0.84[ASN][1000 genomes]
rs2730651	0.80[ASN][1000 genomes]
rs2730653	0.85[ASN][1000 genomes]
rs2730657	0.83[ASN][1000 genomes]
rs2730659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2956427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4768953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768957	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4768971	0.84[ASN][1000 genomes]
rs4768974	0.85[ASN][1000 genomes]
rs56729853	0.84[ASN][1000 genomes]
rs7309374	0.84[ASN][1000 genomes]
rs7310257	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7399214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7953765	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7980076	0.80[ASN][1000 genomes]
rs8490	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.92[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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51443400-51476000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:51454000-51475400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:51454200-51475600	Weak transcription	Stomach Mucosa	stomach
4	chr12:51455400-51470800	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:51459000-51471400	Weak transcription	Fetal Heart	heart
6	chr12:51459000-51475600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:51459800-51475800	Weak transcription	GM12878-XiMat	blood
8	chr12:51461800-51475200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:51462000-51475800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:51462000-51475800	Weak transcription	Pancreas	Pancrea
11	chr12:51462000-51476400	Weak transcription	Gastric	stomach
12	chr12:51462600-51474400	Weak transcription	Fetal Kidney	kidney
13	chr12:51464200-51470800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:51464400-51475800	Weak transcription	HMEC	breast
15	chr12:51464800-51475800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:51465800-51471400	Weak transcription	Fetal Brain Male	brain
17	chr12:51465800-51471800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:51466000-51471400	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:51466000-51471800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:51466000-51475400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:51466000-51475400	Weak transcription	A549	lung
22	chr12:51466200-51471600	Weak transcription	NHDF-Ad	bronchial
23	chr12:51466400-51475600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:51466800-51475800	Weak transcription	Hela-S3	cervix
25	chr12:51467200-51475600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:51467200-51475800	Weak transcription	Primary B cells from cord blood	blood
27	chr12:51467400-51476200	Weak transcription	Colonic Mucosa	Colon
28	chr12:51467800-51471000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:51467800-51471400	Weak transcription	HepG2	liver
30	chr12:51467800-51471600	Weak transcription	Ovary	ovary
31	chr12:51467800-51471600	Weak transcription	NH-A	brain
32	chr12:51467800-51471800	Weak transcription	Aorta	Aorta
33	chr12:51467800-51473600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:51467800-51475200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:51467800-51475200	Weak transcription	HUVEC	blood vessel
36	chr12:51467800-51475400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:51467800-51475400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:51467800-51475800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:51467800-51475800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:51467800-51475800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr12:51467800-51475800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:51467800-51475800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:51467800-51475800	Weak transcription	Liver	Liver
44	chr12:51468000-51471400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:51468000-51471400	Weak transcription	Fetal Brain Female	brain
46	chr12:51468000-51475600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:51468000-51475600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:51468000-51476000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:51468000-51476400	Weak transcription	Esophagus	oesophagus
50	chr12:51468200-51476000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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