Variant report

Variant	rs727422
Chromosome Location	chr11:121168178-121168179
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121165790..121168233-chr11:121171467..121173048,2	K562	blood:
2	chr11:121163462..121165010-chr11:121166449..121168462,2	K562	blood:

Variant related genes	Relation type
ENSG00000109929	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12275106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17125142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55903632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56142837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7128433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7928868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7942396	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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	nsv1042295	chr11:121072853-121177079	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	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
3	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
4	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
rs727422	SC5DL	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121164000-121181400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:121164200-121171000	Weak transcription	Pancreas	Pancrea
3	chr11:121164200-121171400	Weak transcription	Small Intestine	intestine
4	chr11:121164200-121177200	Weak transcription	Placenta	Placenta
5	chr11:121164200-121179600	Weak transcription	Spleen	Spleen
6	chr11:121164200-121183000	Weak transcription	Esophagus	oesophagus
7	chr11:121164400-121168800	Weak transcription	Left Ventricle	heart
8	chr11:121164400-121171000	Weak transcription	Ovary	ovary
9	chr11:121164400-121171000	Weak transcription	Psoas Muscle	Psoas
10	chr11:121164400-121171200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:121164400-121174600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:121164400-121174600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:121164400-121175000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:121164400-121177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:121164400-121177400	Weak transcription	Lung	lung
16	chr11:121164400-121177600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:121164400-121179400	Weak transcription	Colonic Mucosa	Colon
18	chr11:121164400-121183000	Weak transcription	Fetal Stomach	stomach
19	chr11:121164600-121171000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:121164600-121171000	Weak transcription	Right Ventricle	heart
21	chr11:121164600-121175000	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:121164600-121175000	Weak transcription	Fetal Thymus	thymus
23	chr11:121164600-121175400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:121164600-121177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:121164600-121177600	Weak transcription	Aorta	Aorta
26	chr11:121164600-121180200	Weak transcription	K562	blood
27	chr11:121164800-121169800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:121164800-121170800	Weak transcription	Stomach Mucosa	stomach
29	chr11:121164800-121171000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:121164800-121171000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:121164800-121175000	Weak transcription	Primary B cells from cord blood	blood
32	chr11:121164800-121175000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:121164800-121175000	Weak transcription	Brain Anterior Caudate	brain
34	chr11:121164800-121175000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:121164800-121177000	Weak transcription	Brain Germinal Matrix	brain
36	chr11:121164800-121177200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:121164800-121177200	Weak transcription	Fetal Kidney	kidney
38	chr11:121164800-121177200	Weak transcription	Osteobl	bone
39	chr11:121164800-121177400	Weak transcription	Thymus	Thymus
40	chr11:121164800-121182000	Weak transcription	A549	lung
41	chr11:121165000-121168600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr11:121165000-121170800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:121165000-121171000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:121165000-121174400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:121165000-121175000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:121165000-121175400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:121165000-121176000	Weak transcription	Fetal Intestine Large	intestine
48	chr11:121165000-121177200	Weak transcription	Brain Hippocampus Middle	brain
49	chr11:121165000-121177200	Weak transcription	Brain Substantia Nigra	brain
50	chr11:121165000-121189400	Weak transcription	Fetal Intestine Small	intestine

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