Variant report

Variant	rs3767638
Chromosome Location	chr1:161726951-161726952
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161717547..161721793-chr1:161722241..161732156,16	K562	blood:
2	chr1:161726675..161730185-chr1:162535816..162538493,3	K562	blood:
3	chr1:161708003..161709777-chr1:161726766..161729358,2	K562	blood:
4	chr1:161725261..161728116-chr1:161728492..161730650,2	MCF-7	breast:
5	chr1:161718657..161721978-chr1:161725232..161728078,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081721	Chromatin interaction
ENSG00000117143	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1394065	0.92[ASN][1000 genomes]
rs16852851	0.92[ASN][1000 genomes]
rs35541527	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4532807	0.92[ASN][1000 genomes]
rs61104653	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71634909	0.82[AFR][1000 genomes]
rs73019349	0.92[ASN][1000 genomes]
rs73019352	0.92[ASN][1000 genomes]
rs74125007	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74125022	0.92[ASN][1000 genomes]
rs74125028	0.92[ASN][1000 genomes]
rs905593	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953301	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3767638	ATF6	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161720400-161734600	Weak transcription	Aorta	Aorta
2	chr1:161720600-161728800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:161720600-161734600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:161720600-161734800	Weak transcription	Psoas Muscle	Psoas
5	chr1:161720600-161736000	Weak transcription	Spleen	Spleen
6	chr1:161720800-161734600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:161720800-161735000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:161720800-161735000	Weak transcription	Stomach Mucosa	stomach
9	chr1:161721000-161728200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:161721000-161728800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:161721000-161728800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:161721000-161728800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:161721000-161728800	Strong transcription	Placenta	Placenta
14	chr1:161721000-161734600	Weak transcription	Right Ventricle	heart
15	chr1:161721000-161734600	Weak transcription	HSMMtube	muscle
16	chr1:161721000-161735000	Weak transcription	Fetal Heart	heart
17	chr1:161721200-161727400	Strong transcription	Brain Cingulate Gyrus	brain
18	chr1:161721200-161728600	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr1:161721200-161728600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:161721200-161728600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:161721200-161728600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr1:161721200-161728800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:161721200-161728800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:161721200-161728800	Strong transcription	Fetal Intestine Large	intestine
25	chr1:161721200-161729000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:161721200-161729000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:161721200-161729600	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:161721200-161730000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:161721200-161730000	Strong transcription	Liver	Liver
30	chr1:161721200-161731000	Weak transcription	Right Atrium	heart
31	chr1:161721200-161732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:161721200-161733800	Weak transcription	Pancreas	Pancrea
33	chr1:161721200-161734600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:161721200-161734800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:161721400-161727400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:161721400-161728600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr1:161721400-161728600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:161721400-161728600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:161721400-161728600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:161721400-161728600	Strong transcription	HSMM	muscle
41	chr1:161721400-161728600	Strong transcription	HUVEC	blood vessel
42	chr1:161721400-161728600	Strong transcription	NH-A	brain
43	chr1:161721400-161728800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:161721400-161728800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr1:161721400-161728800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:161721400-161728800	Strong transcription	Osteobl	bone
47	chr1:161721400-161729800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:161721600-161727400	Strong transcription	Primary B cells from cord blood	blood
49	chr1:161721600-161727400	Strong transcription	A549	lung
50	chr1:161721600-161728000	Strong transcription	NHDF-Ad	bronchial

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