Variant report

Variant	rs1984362
Chromosome Location	chr4:100070973-100070974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100069725..100072421-chr4:100081070..100082749,2	K562	blood:

Variant related genes	Relation type
ENSG00000249065	Chromatin interaction

Extended variants
information (count: 201 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:189)

rs_ID	r²[population]
rs10017466	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs1042364	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1042365	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1126670	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs1126671	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs1126672	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1126673	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs1133485	0.86[AMR][1000 genomes]
rs1139490	0.84[EUR][1000 genomes]
rs1154400	0.81[CEU][hapmap]
rs1154405	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs1154406	0.83[AMR][1000 genomes]
rs1154410	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs12506256	0.82[AMR][1000 genomes]
rs13102874	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13107558	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13108999	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13110176	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13110764	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13112176	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13112733	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13113166	0.88[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1311615	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs1311616	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs1311617	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs1311618	0.83[AMR][1000 genomes]
rs1311619	0.83[AMR][1000 genomes]
rs1311620	0.81[CEU][hapmap]
rs13127153	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13127582	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13129488	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13132776	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13132999	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13133214	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13133633	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13133647	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13138294	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13140423	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13143133	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1377689	0.92[CEU][hapmap];0.86[AMR][1000 genomes]
rs1453873	0.86[AMR][1000 genomes]
rs1453874	0.91[CEU][hapmap];0.86[AMR][1000 genomes]
rs17217949	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218003	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218073	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218108	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218141	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218162	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218239	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218288	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218560	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218602	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17817359	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17817868	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17817958	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1840228	0.86[AMR][1000 genomes]
rs1840230	0.86[AMR][1000 genomes]
rs1840231	0.86[AMR][1000 genomes]
rs1984364	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2034696	0.86[AMR][1000 genomes]
rs2213035	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2602845	0.86[AMR][1000 genomes]
rs2602846	0.86[AMR][1000 genomes]
rs2602847	0.82[AMR][1000 genomes]
rs2602855	0.86[AMR][1000 genomes]
rs2602858	0.86[AMR][1000 genomes]
rs2602859	0.86[AMR][1000 genomes]
rs2602865	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2602866	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2602870	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2602872	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2602873	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2602875	0.80[EUR][1000 genomes]
rs2602876	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2602877	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2602878	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2602881	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2602882	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2602883	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2602887	0.83[AMR][1000 genomes]
rs2602888	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2602891	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2602893	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602894	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602895	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2602896	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602897	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851246	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851247	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851248	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851249	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851252	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2851253	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2851254	0.84[EUR][1000 genomes]
rs2851255	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2851256	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2851257	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2851258	0.82[EUR][1000 genomes]
rs2851260	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2851263	0.86[AMR][1000 genomes]
rs2851265	0.86[AMR][1000 genomes]
rs2851267	0.86[AMR][1000 genomes]
rs2851268	0.86[AMR][1000 genomes]
rs2851269	0.86[AMR][1000 genomes]
rs2851277	0.95[CEU][hapmap];0.86[AMR][1000 genomes]
rs2851278	0.92[CEU][hapmap];0.86[AMR][1000 genomes]
rs2851286	0.83[AMR][1000 genomes]
rs28987088	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28987097	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28987098	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28987100	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28987101	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28987102	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001183	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001194	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001195	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001196	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001199	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001201	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001202	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs29001203	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001208	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001209	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001211	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001212	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001214	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001215	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001216	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001217	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs29001223	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001224	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001229	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs29001231	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs29001232	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2924580	0.90[AMR][1000 genomes]
rs2924583	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2924586	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3018047	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs3018048	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs34071486	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34118841	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34360292	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34634551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34805407	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34876213	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34936974	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35062722	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35073321	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35146617	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35361391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35406734	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35491981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35662508	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35784540	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35797419	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35988291	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36034266	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3919370	0.92[CEU][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4235435	0.81[EUR][1000 genomes]
rs4235436	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4699710	0.85[EUR][1000 genomes]
rs4699712	0.96[CEU][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4699713	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4699714	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4699716	0.96[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699717	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4699718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56222233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56272995	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56295995	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6532798	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs67311928	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6813415	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6822348	0.85[EUR][1000 genomes]
rs6822830	0.83[AMR][1000 genomes]
rs6831225	0.83[AMR][1000 genomes]
rs6831352	0.85[EUR][1000 genomes]
rs6837685	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs6848050	0.84[EUR][1000 genomes]
rs7434491	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7669636	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7670060	0.96[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7670241	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7670638	0.91[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7672728	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7689753	0.86[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7694646	0.95[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9684944	0.82[AFR][1000 genomes]
rs9761048	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1002574	chr4:100023999-100133693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3528915	chr4:100025155-100096234	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3528916	chr4:100025155-100096234	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3373134	chr4:100069604-100071602	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv2586628	chr4:100069725-100071335	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3322120	chr4:100070079-100071127	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1984362	ADH5	cis	Whole Blood	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100035000-100098200	Weak transcription	Ovary	ovary
2	chr4:100056800-100082600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:100064000-100082600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:100065600-100071600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:100065600-100096600	Weak transcription	Fetal Lung	lung
6	chr4:100066200-100083200	Enhancers	Liver	Liver
7	chr4:100066600-100071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:100066600-100082600	Weak transcription	Pancreas	Pancrea
9	chr4:100068800-100071600	Enhancers	Fetal Intestine Small	intestine
10	chr4:100069000-100071200	Enhancers	Fetal Intestine Large	intestine
11	chr4:100069200-100071000	Enhancers	HepG2	liver
12	chr4:100069400-100071400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:100070200-100071600	Enhancers	Duodenum Mucosa	Duodenum
14	chr4:100070400-100071000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:100070600-100071000	Enhancers	Small Intestine	intestine
16	chr4:100070600-100071000	Enhancers	Dnd41	blood
17	chr4:100070800-100071000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr4:100070800-100071200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr4:100070800-100071600	Enhancers	Colonic Mucosa	Colon

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