Variant report

Variant	rs12226297
Chromosome Location	chr11:121185128-121185129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121183918..121185810-chr11:121187037..121189275,2	K562	blood:
2	chr11:121179024..121181756-chr11:121184079..121185753,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10892717	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10892720	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12786590	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2060008	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35288685	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6589872	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7102059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106203	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930204	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891441	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898424	chr11:121108865-121206354	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv898425	chr11:121115206-121215237	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv898426	chr11:121136604-121206354	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12226297	SC5D	cis	Thyroid	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121165000-121189400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:121171600-121189600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:121171800-121190200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:121176200-121190000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:121178000-121186600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:121178000-121190000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:121178200-121185600	Weak transcription	Lung	lung
8	chr11:121178200-121189800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:121178200-121189800	Weak transcription	Fetal Brain Male	brain
10	chr11:121178200-121190200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:121178200-121190200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:121178200-121196400	Weak transcription	Ovary	ovary
13	chr11:121178400-121189800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:121178400-121190000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:121178400-121192400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:121178600-121189400	Weak transcription	Fetal Intestine Large	intestine
17	chr11:121178600-121190200	Weak transcription	NHEK	skin
18	chr11:121178600-121192400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:121178600-121192800	Weak transcription	Right Ventricle	heart
20	chr11:121178800-121189800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:121178800-121190000	Weak transcription	Brain Germinal Matrix	brain
22	chr11:121178800-121190200	Weak transcription	Brain Anterior Caudate	brain
23	chr11:121178800-121192200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:121178800-121192200	Weak transcription	Brain Angular Gyrus	brain
25	chr11:121178800-121192200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:121178800-121194000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:121179000-121192000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:121179400-121185600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:121179800-121189600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:121179800-121190200	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:121180000-121189600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:121180000-121190200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:121180000-121190200	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:121180000-121192600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:121180000-121198200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:121180200-121188200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:121180200-121188800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:121180200-121190000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:121180200-121192400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:121180200-121192400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr11:121180200-121193800	Weak transcription	Fetal Brain Female	brain
42	chr11:121180200-121194000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:121180600-121189200	Weak transcription	Dnd41	blood
44	chr11:121180600-121189600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:121180600-121189600	Weak transcription	Fetal Thymus	thymus
46	chr11:121180600-121190200	Weak transcription	HMEC	breast
47	chr11:121180600-121197600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:121180800-121189400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:121180800-121189400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:121180800-121190000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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