Variant report

Variant	rs636418
Chromosome Location	chr11:75292742-75292743
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr11:75292613-75292778	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75291103..75293219-chr11:75299470..75301850,2	MCF-7	breast:
2	chr11:75258253..75259253-chr11:75292571..75293530,2	K562	blood:
3	chr11:75279889..75285292-chr11:75289695..75295814,8	K562	blood:

Variant related genes	Relation type
ENSG00000255326	TF binding region
ENSG00000149257	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1228367	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17134125	0.81[YRI][hapmap]
rs1793395	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2015782	0.87[JPT][hapmap]
rs544997	0.87[JPT][hapmap]
rs584046	0.82[JPT][hapmap]
rs585433	0.88[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs588955	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs589063	0.84[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs599816	0.88[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs601142	0.86[JPT][hapmap]
rs601293	0.82[JPT][hapmap]
rs609131	0.86[JPT][hapmap]
rs611221	0.86[JPT][hapmap]
rs617449	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs645766	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs648930	0.86[JPT][hapmap]
rs650766	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs664133	0.82[JPT][hapmap]
rs694844	0.88[CEU][hapmap];0.93[JPT][hapmap];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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs636418	CTD-2530H12.4	cis	Artery Tibial	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75275200-75293800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:75275400-75293400	Weak transcription	Fetal Brain Male	brain
3	chr11:75275600-75293400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:75277800-75293400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:75278000-75293200	Weak transcription	Right Atrium	heart
6	chr11:75281200-75293200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:75281400-75293200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:75282200-75293200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:75282800-75293400	Weak transcription	Brain Substantia Nigra	brain
10	chr11:75282800-75293800	Weak transcription	A549	lung
11	chr11:75283200-75293200	Weak transcription	Psoas Muscle	Psoas
12	chr11:75283200-75293800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:75283800-75293400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:75284400-75293000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:75284400-75293400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:75284400-75293600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:75284400-75293800	Weak transcription	Fetal Heart	heart
18	chr11:75284600-75293200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:75284600-75294000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:75284800-75293200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:75284800-75293600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:75284800-75293800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:75284800-75293800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:75285000-75293400	Weak transcription	Liver	Liver
25	chr11:75285000-75293600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:75285000-75293800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:75285000-75294000	Weak transcription	Aorta	Aorta
28	chr11:75285000-75294000	Weak transcription	HMEC	breast
29	chr11:75285200-75293400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:75285200-75293400	Weak transcription	Brain Anterior Caudate	brain
31	chr11:75285200-75293400	Weak transcription	NHEK	skin
32	chr11:75285200-75293600	Weak transcription	Brain Angular Gyrus	brain
33	chr11:75285200-75293600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:75285400-75293600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:75285400-75293600	Weak transcription	Fetal Lung	lung
36	chr11:75285400-75293800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:75285600-75293400	Weak transcription	NH-A	brain
38	chr11:75285600-75293800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:75285600-75293800	Weak transcription	HSMMtube	muscle
40	chr11:75285600-75294000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:75285800-75293400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:75285800-75293400	Weak transcription	Primary T cells from cord blood	blood
43	chr11:75285800-75293600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:75286000-75294000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:75286600-75293400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:75286800-75293200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:75287200-75293400	Weak transcription	Esophagus	oesophagus
48	chr11:75287400-75293600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:75287600-75293200	Weak transcription	Right Ventricle	heart
50	chr11:75287600-75293800	Weak transcription	HSMM	muscle

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