Variant report

Variant	rs751417
Chromosome Location	chr11:121164440-121164441
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	chr11:121120979..121124837-chr11:121162716..121167264,4	MCF-7	breast:
2	chr11:121135011..121137028-chr11:121164041..121166376,2	K562	blood:

Variant related genes	Relation type
ENSG00000244400	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10219304	0.85[CHB][hapmap]
rs1061332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10750182	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10750183	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10790419	0.84[AMR][1000 genomes]
rs10790428	0.84[AMR][1000 genomes]
rs10790432	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10892715	0.84[AMR][1000 genomes]
rs12419633	0.81[AMR][1000 genomes]
rs1583124	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2163281	0.84[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59005463	0.84[AMR][1000 genomes]
rs6589870	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7115581	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7115602	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7119061	0.85[CHB][hapmap]
rs7128047	0.81[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7128342	0.84[CEU][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7937589	0.84[AMR][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
rs751417	SC5DL	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121162600-121164600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:121162600-121164600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:121162600-121164600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:121162600-121164600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr11:121162600-121164600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:121162600-121164600	Active TSS	Liver	Liver
7	chr11:121162600-121164600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:121162600-121164600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:121162600-121164600	Active TSS	Right Ventricle	heart
10	chr11:121162600-121164800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr11:121162600-121164800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:121162600-121164800	Active TSS	Fetal Brain Male	brain
13	chr11:121162600-121165000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:121162600-121165400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:121162600-121165400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:121162600-121165400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:121162600-121165400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:121162600-121165400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:121162600-121165600	Active TSS	Muscle Satellite Cultured Cells	--
20	chr11:121162600-121166400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:121162800-121164600	Active TSS	Aorta	Aorta
22	chr11:121162800-121164800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:121162800-121164800	Active TSS	Fetal Kidney	kidney
24	chr11:121162800-121165000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:121162800-121165200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:121162800-121165400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:121162800-121166800	Active TSS	GM12878-XiMat	blood
28	chr11:121163000-121164600	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:121163000-121164600	Active TSS	Fetal Muscle Leg	muscle
30	chr11:121163000-121164600	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr11:121163000-121164600	Bivalent/Poised TSS	HepG2	liver
32	chr11:121163000-121164800	Active TSS	Thymus	Thymus
33	chr11:121163000-121165000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:121163000-121165400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr11:121163000-121165400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr11:121163000-121165400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:121163000-121166600	Active TSS	HSMMtube	muscle
38	chr11:121163200-121164600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:121163200-121164600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:121163200-121164600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:121163200-121164600	Active TSS	HSMM	muscle
42	chr11:121163200-121164600	Active TSS	NHEK	skin
43	chr11:121163200-121164600	Active TSS	Osteobl	bone
44	chr11:121163200-121164800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:121163200-121164800	Active TSS	NHDF-Ad	bronchial
46	chr11:121163200-121165000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:121163200-121165200	Active TSS	NHLF	lung
48	chr11:121163200-121165400	Active TSS	HMEC	breast
49	chr11:121163600-121164800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr11:121163600-121164800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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