Variant report

Variant	rs2436844
Chromosome Location	chr8:103850092-103850093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103848382..103851971-chr8:103862730..103867315,5	MCF-7	breast:
2	chr8:103846462..103848173-chr8:103849963..103852725,2	K562	blood:
3	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
4	chr8:103840357..103844768-chr8:103847000..103852337,5	MCF-7	breast:
5	chr8:103848125..103852182-chr8:103854378..103856662,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253385	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1055376	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10808382	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs10955294	0.83[CHB][hapmap]
rs1138	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1434235	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1991927	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2117313	0.93[EUR][1000 genomes]
rs2164061	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2256440	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2304346	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2436846	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2436847	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2436848	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2436857	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs2436865	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513898	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513910	0.84[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs2513913	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513916	0.90[EUR][1000 genomes]
rs2513918	0.91[EUR][1000 genomes]
rs2513919	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513921	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2513922	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2513935	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2570939	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2570942	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2570944	0.89[EUR][1000 genomes]
rs2570947	0.85[ASN][1000 genomes]
rs2570950	0.85[ASN][1000 genomes]
rs2679742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2679746	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2679748	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2679749	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679751	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679752	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679754	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2679755	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2679756	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2679757	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2679758	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2916561	0.85[ASN][1000 genomes]
rs2916564	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3018956	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34655485	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs548488	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs565720	0.84[CHD][hapmap]
rs567395	0.80[ASN][1000 genomes]
rs581610	0.84[YRI][hapmap]
rs601088	0.84[YRI][hapmap]
rs665298	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs678839	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs6921	0.93[EUR][1000 genomes]
rs892484	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs892485	0.92[CEU][hapmap]
rs892486	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs972142	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs974759	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2436844	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103823000-103855000	Weak transcription	Esophagus	oesophagus
2	chr8:103823200-103853400	Weak transcription	Right Atrium	heart
3	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
4	chr8:103826800-103871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:103833000-103858600	Strong transcription	A549	lung
6	chr8:103833400-103870800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:103833800-103855200	Weak transcription	Small Intestine	intestine
8	chr8:103834400-103853800	Strong transcription	HSMM	muscle
9	chr8:103834600-103853800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:103834600-103856800	Strong transcription	Osteobl	bone
11	chr8:103834600-103867800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:103834600-103871200	Strong transcription	K562	blood
13	chr8:103835000-103856600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:103835000-103856800	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr8:103835000-103868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:103835000-103871000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:103835200-103850600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:103835200-103856200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:103835200-103856800	Strong transcription	NHLF	lung
20	chr8:103835200-103870200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:103835200-103874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:103835400-103856200	Strong transcription	Placenta	Placenta
23	chr8:103835400-103856600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr8:103835600-103856600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:103835600-103856800	Strong transcription	Fetal Thymus	thymus
26	chr8:103835600-103857400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:103835600-103867800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr8:103835800-103861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:103835800-103871000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:103836000-103856200	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr8:103836000-103867800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:103836000-103871000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:103836200-103856600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr8:103836200-103868000	Strong transcription	HMEC	breast
35	chr8:103836200-103873000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:103836600-103856600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr8:103836600-103856800	Strong transcription	Fetal Intestine Large	intestine
38	chr8:103836600-103858000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:103836600-103870600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr8:103836800-103851400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:103837000-103855000	Strong transcription	Brain Anterior Caudate	brain
42	chr8:103837200-103856200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr8:103837200-103856800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:103837200-103856800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr8:103837400-103866400	Strong transcription	NHEK	skin
46	chr8:103837600-103856600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:103837600-103856600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:103837600-103867000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:103837600-103870400	Strong transcription	Dnd41	blood
50	chr8:103838000-103856800	Strong transcription	Hela-S3	cervix

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