Variant report

Variant	rs2679754
Chromosome Location	chr8:103868000-103868001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103847188..103849058-chr8:103867728..103870854,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-1	chr8:103867606-103868303	ENSG00000253385

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1055376	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10808382	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs10955294	0.83[CHB][hapmap]
rs1138	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1434235	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1991927	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2117313	0.91[EUR][1000 genomes]
rs2164061	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2256440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2304346	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2436844	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]
rs2436846	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2436847	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2436848	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2436857	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2436865	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2513898	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2513910	0.88[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap]
rs2513913	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513916	0.88[EUR][1000 genomes]
rs2513918	0.89[EUR][1000 genomes]
rs2513919	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2513921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2570939	0.92[EUR][1000 genomes]
rs2570942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2570944	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2570947	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2570950	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2679742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2679746	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2679748	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2679749	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679751	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2679756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2679757	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2679758	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28594922	0.89[ASN][1000 genomes]
rs2916561	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2916564	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3018956	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34655485	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs548488	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs565720	0.84[CHD][hapmap]
rs567395	0.92[ASN][1000 genomes]
rs581610	0.91[YRI][hapmap]
rs601088	0.91[YRI][hapmap]
rs665298	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs678839	0.89[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs6921	0.91[EUR][1000 genomes]
rs892484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs892485	0.96[CEU][hapmap]
rs892486	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs972142	0.93[ASW][hapmap];1.00[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];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs974759	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[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
rs2679754	AZIN1	cis	multi-tissue	Pritchard

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
2	chr8:103826800-103871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:103833400-103870800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:103834600-103871200	Strong transcription	K562	blood
5	chr8:103835000-103868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:103835000-103871000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:103835200-103870200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:103835200-103874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:103835800-103871000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:103836000-103871000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:103836200-103868000	Strong transcription	HMEC	breast
12	chr8:103836200-103873000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:103836600-103870600	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr8:103837600-103870400	Strong transcription	Dnd41	blood
15	chr8:103839200-103870800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:103841000-103870200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:103843200-103868200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:103843400-103868000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:103845600-103868600	Strong transcription	GM12878-XiMat	blood
20	chr8:103848800-103869000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:103848800-103870600	Weak transcription	Fetal Heart	heart
22	chr8:103852000-103868800	Weak transcription	Psoas Muscle	Psoas
23	chr8:103853800-103868000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:103855200-103870200	Weak transcription	Gastric	stomach
25	chr8:103855400-103870800	Strong transcription	HSMM	muscle
26	chr8:103856000-103871600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:103856000-103872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:103856000-103874200	Weak transcription	Brain Substantia Nigra	brain
29	chr8:103856200-103873800	Weak transcription	Fetal Brain Male	brain
30	chr8:103857600-103870800	Strong transcription	NH-A	brain
31	chr8:103857800-103868000	Strong transcription	Primary B cells from cord blood	blood
32	chr8:103857800-103871800	Weak transcription	Small Intestine	intestine
33	chr8:103858000-103870200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:103858200-103870400	Strong transcription	Fetal Thymus	thymus
35	chr8:103858200-103870600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:103858200-103871400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:103858600-103868000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:103858600-103870600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr8:103859000-103868000	Strong transcription	Osteobl	bone
40	chr8:103859200-103870200	Strong transcription	Hela-S3	cervix
41	chr8:103859200-103870400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:103859200-103870400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:103859200-103871200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:103859400-103870200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr8:103859400-103870400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:103859800-103868400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:103859800-103868600	Strong transcription	Liver	Liver
48	chr8:103859800-103869400	Strong transcription	Fetal Intestine Large	intestine
49	chr8:103859800-103870400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr8:103859800-103871000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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