Variant report

Variant	rs7984598
Chromosome Location	chr13:80058308-80058309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:80054400..80056939-chr13:80057406..80059171,2	MCF-7	breast:
2	chr13:80057193..80059999-chr13:80114272..80116741,2	K562	blood:
3	chr13:80056153..80058862-chr13:80062367..80066425,4	K562	blood:

Variant related genes	Relation type
ENSG00000102471	Chromatin interaction
ENSG00000232132	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10492579	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10507899	0.88[EUR][1000 genomes]
rs1335372	0.92[AMR][1000 genomes]
rs1335373	0.81[EUR][1000 genomes]
rs1414157	0.88[EUR][1000 genomes]
rs17071499	0.96[EUR][1000 genomes]
rs17071532	0.88[EUR][1000 genomes]
rs17071549	0.84[EUR][1000 genomes]
rs17071558	0.81[EUR][1000 genomes]
rs17071566	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17071574	0.88[EUR][1000 genomes]
rs17071585	0.88[EUR][1000 genomes]
rs17071627	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17071632	0.81[EUR][1000 genomes]
rs41288268	0.96[EUR][1000 genomes]
rs56711390	0.88[EUR][1000 genomes]
rs57032852	0.88[EUR][1000 genomes]
rs57929179	0.84[EUR][1000 genomes]
rs58056613	0.92[EUR][1000 genomes]
rs58069884	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58264675	0.92[AMR][1000 genomes]
rs58406632	0.88[EUR][1000 genomes]
rs59165380	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59381369	0.81[EUR][1000 genomes]
rs59755477	0.84[EUR][1000 genomes]
rs59783325	0.88[EUR][1000 genomes]
rs60126328	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61318325	0.84[EUR][1000 genomes]
rs61676417	0.88[EUR][1000 genomes]
rs6563117	0.88[EUR][1000 genomes]
rs7139902	0.92[AMR][1000 genomes]
rs7317409	0.81[EUR][1000 genomes]
rs7317511	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7318854	0.81[EUR][1000 genomes]
rs7318984	0.81[EUR][1000 genomes]
rs7327148	0.88[EUR][1000 genomes]
rs7329633	0.88[EUR][1000 genomes]
rs7330804	0.81[EUR][1000 genomes]
rs7338043	0.88[EUR][1000 genomes]
rs73548948	0.92[AMR][1000 genomes]
rs73548951	0.96[EUR][1000 genomes]
rs73548955	0.96[EUR][1000 genomes]
rs73551558	0.96[EUR][1000 genomes]
rs73551595	0.88[EUR][1000 genomes]
rs73551596	0.88[EUR][1000 genomes]
rs73551597	0.88[EUR][1000 genomes]
rs73551601	0.88[EUR][1000 genomes]
rs73551602	0.88[EUR][1000 genomes]
rs73553403	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73553418	0.84[EUR][1000 genomes]
rs73553424	0.88[EUR][1000 genomes]
rs73553431	0.88[EUR][1000 genomes]
rs73553447	0.88[EUR][1000 genomes]
rs73553448	0.84[EUR][1000 genomes]
rs73553473	0.88[EUR][1000 genomes]
rs73553481	0.85[EUR][1000 genomes]
rs73553499	0.81[EUR][1000 genomes]
rs73555411	0.81[EUR][1000 genomes]
rs73555415	0.81[EUR][1000 genomes]
rs7491258	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7981574	0.88[EUR][1000 genomes]
rs7984159	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7985220	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7985697	0.96[EUR][1000 genomes]
rs7990190	0.88[EUR][1000 genomes]
rs7990464	0.88[EUR][1000 genomes]
rs7997554	0.92[EUR][1000 genomes]
rs7998452	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8000870	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80054800-80059400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:80056000-80058800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:80056200-80058800	Weak transcription	Small Intestine	intestine
4	chr13:80056200-80059200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:80056200-80060600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:80056200-80060800	Weak transcription	Gastric	stomach
7	chr13:80056200-80063200	Weak transcription	Left Ventricle	heart
8	chr13:80056200-80066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:80056200-80066600	Weak transcription	Psoas Muscle	Psoas
10	chr13:80056200-80077400	Weak transcription	Right Ventricle	heart
11	chr13:80056600-80058600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr13:80056600-80064200	Weak transcription	Placenta	Placenta
13	chr13:80056800-80058800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr13:80056800-80059200	Weak transcription	Pancreas	Pancrea
15	chr13:80056800-80059600	Enhancers	Brain Hippocampus Middle	brain
16	chr13:80056800-80059600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr13:80056800-80061200	Enhancers	Fetal Heart	heart
18	chr13:80056800-80064000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr13:80056800-80064400	Weak transcription	Fetal Stomach	stomach
20	chr13:80056800-80065800	Weak transcription	Fetal Muscle Leg	muscle
21	chr13:80057000-80058400	Enhancers	K562	blood
22	chr13:80057000-80058800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:80057000-80058800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:80057000-80058800	Enhancers	Liver	Liver
25	chr13:80057000-80059000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:80057000-80059200	Enhancers	HepG2	liver
27	chr13:80057000-80063600	Weak transcription	Right Atrium	heart
28	chr13:80057000-80066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:80057200-80058400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr13:80057200-80058400	Flanking Active TSS	Dnd41	blood
31	chr13:80057200-80059200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr13:80057200-80060600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:80057400-80058800	Weak transcription	Adipose Nuclei	Adipose
34	chr13:80057400-80059000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr13:80057400-80059200	Weak transcription	Esophagus	oesophagus
36	chr13:80057400-80060800	Enhancers	HSMM	muscle
37	chr13:80057400-80063400	Weak transcription	GM12878-XiMat	blood
38	chr13:80057400-80064600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr13:80057600-80059000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:80057600-80059200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr13:80057600-80059200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr13:80057600-80059200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:80057600-80059200	Weak transcription	Colon Smooth Muscle	Colon
44	chr13:80057600-80059200	Weak transcription	Fetal Lung	lung
45	chr13:80057600-80060000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:80057600-80061000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr13:80057600-80065400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr13:80057600-80065600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:80057800-80058400	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr13:80057800-80058600	Weak transcription	Brain Inferior Temporal Lobe	brain

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