Variant report

Variant	rs1847383
Chromosome Location	chr1:161749812-161749813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161730263..161732207-chr1:161749033..161750676,2	K562	blood:
2	chr1:161749557..161751662-chr1:161756109..161758616,2	K562	blood:
3	chr1:161748440..161753794-chr1:161754106..161757609,6	K562	blood:
4	chr1:161719390..161721550-chr1:161747541..161749936,2	K562	blood:
5	chr1:161736057..161737642-chr1:161746754..161750138,3	K562	blood:

Variant related genes	Relation type
ENSG00000118217	Chromatin interaction
ENSG00000081721	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1006310	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1027700	0.81[ASN][1000 genomes]
rs1058405	0.81[ASN][1000 genomes]
rs10918137	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11576878	0.82[ASN][1000 genomes]
rs12124509	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2257107	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2340720	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2340721	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4656336	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4657106	0.82[ASN][1000 genomes]
rs61802510	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6666482	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6683830	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6695760	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7519514	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs905594	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs931778	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1847383	ATF6	Cis_1M	lymphoblastoid	RTeQTL
rs1847383	FCRLA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161736800-161752000	Weak transcription	Lung	lung
2	chr1:161736800-161754000	Weak transcription	Colonic Mucosa	Colon
3	chr1:161736800-161757200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:161737000-161751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:161737000-161752000	Weak transcription	Left Ventricle	heart
6	chr1:161737000-161765600	Weak transcription	Aorta	Aorta
7	chr1:161737200-161751200	Weak transcription	Placenta	Placenta
8	chr1:161737200-161751400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:161737200-161752200	Weak transcription	Psoas Muscle	Psoas
10	chr1:161737200-161752600	Weak transcription	Esophagus	oesophagus
11	chr1:161737200-161752800	Weak transcription	HSMMtube	muscle
12	chr1:161737200-161761600	Weak transcription	Fetal Brain Male	brain
13	chr1:161737200-161761600	Weak transcription	Right Ventricle	heart
14	chr1:161737200-161775200	Weak transcription	Fetal Stomach	stomach
15	chr1:161737200-161775800	Weak transcription	Stomach Mucosa	stomach
16	chr1:161737200-161780000	Weak transcription	Fetal Intestine Small	intestine
17	chr1:161737400-161750400	Weak transcription	Fetal Intestine Large	intestine
18	chr1:161737400-161751400	Weak transcription	Osteobl	bone
19	chr1:161737400-161752200	Weak transcription	HSMM	muscle
20	chr1:161737600-161751400	Weak transcription	NHDF-Ad	bronchial
21	chr1:161737600-161752000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:161737600-161762000	Weak transcription	Fetal Lung	lung
23	chr1:161737600-161764600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:161737800-161750400	Weak transcription	Brain Germinal Matrix	brain
25	chr1:161738000-161752400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:161738200-161752200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:161738200-161753600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:161738200-161760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:161738400-161751200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:161738400-161754000	Weak transcription	Fetal Brain Female	brain
31	chr1:161738600-161752200	Weak transcription	HepG2	liver
32	chr1:161738600-161752600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:161738600-161753800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:161738600-161794000	Weak transcription	Pancreas	Pancrea
35	chr1:161738600-161795600	Weak transcription	Gastric	stomach
36	chr1:161739400-161752600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:161739400-161753800	Weak transcription	NH-A	brain
38	chr1:161739400-161753800	Weak transcription	NHEK	skin
39	chr1:161739600-161750600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:161740200-161751600	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:161740400-161761800	Weak transcription	Ovary	ovary
42	chr1:161741600-161752000	Weak transcription	Brain Anterior Caudate	brain
43	chr1:161741800-161750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:161741800-161752600	Weak transcription	Spleen	Spleen
45	chr1:161742000-161752200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:161742000-161754000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:161742400-161752000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:161742400-161752800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:161742400-161773000	Weak transcription	Small Intestine	intestine
50	chr1:161743600-161751800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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