Variant report

Variant	rs13246227
Chromosome Location	chr7:66429112-66429113
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	chr7:66421917..66425693-chr7:66427174..66429869,5	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13228779	0.88[EUR][1000 genomes]
rs13229468	0.88[EUR][1000 genomes]
rs13232393	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13233569	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13238478	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13238612	0.88[EUR][1000 genomes]
rs1880644	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34314366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34423980	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34785430	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34816289	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35043782	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35111158	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35390465	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35508430	0.88[EUR][1000 genomes]
rs35821254	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35876551	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36059333	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4457208	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55889925	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56006261	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56235846	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60201031	0.86[EUR][1000 genomes]
rs67319329	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs869249	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs876743	0.93[AMR][1000 genomes];0.97[EUR][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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs13246227	VKORC1L1	Cis_chr	lymphoblastoid	RTeQTL
rs13246227	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs13246227	GUSB	cis	Whole Blood	GTEx
rs13246227	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs13246227	ASL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66421400-66429200	Weak transcription	Fetal Brain Male	brain
3	chr7:66421400-66435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:66422600-66430400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:66423200-66429400	Weak transcription	NHDF-Ad	bronchial
6	chr7:66423400-66435400	Weak transcription	Colonic Mucosa	Colon
7	chr7:66423600-66429600	Weak transcription	HUVEC	blood vessel
8	chr7:66424000-66434400	Weak transcription	Stomach Mucosa	stomach
9	chr7:66424200-66429600	Weak transcription	Primary B cells from cord blood	blood
10	chr7:66424200-66429600	Weak transcription	Fetal Lung	lung
11	chr7:66424200-66429800	Weak transcription	NH-A	brain
12	chr7:66424200-66432600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:66424400-66429600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:66424400-66439600	Weak transcription	K562	blood
15	chr7:66424600-66429800	Weak transcription	NHEK	skin
16	chr7:66424600-66430000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:66424800-66429800	Weak transcription	GM12878-XiMat	blood
18	chr7:66424800-66435400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:66425000-66430000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:66425000-66433600	Weak transcription	HSMMtube	muscle
21	chr7:66425200-66429600	Weak transcription	HSMM	muscle
22	chr7:66425200-66429800	Weak transcription	Primary T cells from cord blood	blood
23	chr7:66425800-66429400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:66425800-66429400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:66425800-66429400	Weak transcription	Placenta	Placenta
26	chr7:66425800-66429600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:66425800-66429600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:66425800-66429800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:66425800-66430600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:66425800-66432200	Weak transcription	Pancreas	Pancrea
31	chr7:66425800-66435400	Weak transcription	Gastric	stomach
32	chr7:66425800-66435600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:66425800-66437200	Weak transcription	Fetal Intestine Large	intestine
34	chr7:66425800-66437800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:66426000-66429800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:66426000-66434400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:66426400-66429200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:66426400-66429400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:66426400-66429400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:66426400-66429400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:66426400-66429400	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:66426400-66430000	Weak transcription	Fetal Thymus	thymus
43	chr7:66426400-66430600	Weak transcription	Esophagus	oesophagus
44	chr7:66426400-66435200	Weak transcription	A549	lung
45	chr7:66426400-66453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:66426600-66429400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:66426600-66429600	Weak transcription	Fetal Stomach	stomach
48	chr7:66426600-66429600	Weak transcription	Spleen	Spleen
49	chr7:66426600-66432400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:66426800-66429600	Weak transcription	Fetal Intestine Small	intestine

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