Variant report

Variant	rs2257107
Chromosome Location	chr1:161823011-161823012
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161820600..161823167-chr1:161894156..161896088,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1006310	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1027700	0.80[ASN][1000 genomes]
rs1058405	0.80[ASN][1000 genomes]
rs10918137	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11581556	0.81[ASN][1000 genomes]
rs12124509	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1847383	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2340720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2340721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3767634	0.81[ASN][1000 genomes]
rs4656336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61802507	0.81[ASN][1000 genomes]
rs61802510	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6666482	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6683830	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6695760	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7414603	0.80[ASN][1000 genomes]
rs7519514	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7529356	0.81[ASN][1000 genomes]
rs905594	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs931778	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
5	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1014340	chr1:161822791-161852384	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2257107	ATF6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
2	chr1:161780400-161824400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:161780600-161823400	Weak transcription	A549	lung
4	chr1:161780600-161836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:161780800-161825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:161780800-161834000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:161791800-161823600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:161791800-161842000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:161792000-161823200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:161792200-161838000	Weak transcription	Fetal Brain Male	brain
11	chr1:161795200-161860200	Weak transcription	Lung	lung
12	chr1:161795800-161827600	Weak transcription	Gastric	stomach
13	chr1:161795800-161859000	Weak transcription	Pancreas	Pancrea
14	chr1:161802200-161823200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:161802400-161825000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:161805800-161838200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:161805800-161846200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:161806200-161825600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:161808400-161823200	Weak transcription	Brain Substantia Nigra	brain
20	chr1:161808400-161863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:161808600-161840200	Weak transcription	Right Ventricle	heart
22	chr1:161808800-161858800	Weak transcription	Spleen	Spleen
23	chr1:161809200-161827000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:161809400-161838000	Weak transcription	HMEC	breast
25	chr1:161810200-161824200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:161810200-161829000	Weak transcription	Stomach Mucosa	stomach
27	chr1:161810600-161835800	Weak transcription	Colonic Mucosa	Colon
28	chr1:161811400-161838400	Strong transcription	Primary B cells from cord blood	blood
29	chr1:161811800-161838200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:161813000-161834200	Weak transcription	Esophagus	oesophagus
31	chr1:161813400-161823200	Weak transcription	NH-A	brain
32	chr1:161814200-161825600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:161815200-161823400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:161815200-161834600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:161815400-161823600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:161816000-161825200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:161816000-161825400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:161816000-161826400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:161816000-161826400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:161816000-161826400	Strong transcription	Liver	Liver
41	chr1:161816200-161826400	Strong transcription	Dnd41	blood
42	chr1:161816400-161829800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:161816800-161824400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:161817000-161825400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:161817400-161825000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:161818000-161823200	Weak transcription	K562	blood
47	chr1:161818400-161826400	Strong transcription	Primary T cells from cord blood	blood
48	chr1:161818800-161827000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:161819000-161828000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:161819200-161824600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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