Variant report

Variant	rs57544957
Chromosome Location	chr13:79989851-79989852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:79987904..79990841-chr13:79991131..79993654,2	K562	blood:
2	chr13:79982898..79986328-chr13:79987860..79991468,4	K562	blood:
3	chr13:79979430..79983158-chr13:79988295..79990891,3	MCF-7	breast:
4	chr13:79989405..79991608-chr13:79994530..79997565,3	K562	blood:
5	chr13:79988180..79990725-chr13:79998257..80000787,2	MCF-7	breast:
6	chr13:79988351..79993028-chr13:79994530..79998422,6	K562	blood:

Variant related genes	Relation type
ENSG00000139746	Chromatin interaction
ENSG00000227354	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1410334	0.85[EUR][1000 genomes]
rs1410335	0.85[EUR][1000 genomes]
rs17071385	1.00[EUR][1000 genomes]
rs17071415	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071499	0.80[EUR][1000 genomes]
rs17071549	0.80[AFR][1000 genomes]
rs41288268	0.80[EUR][1000 genomes]
rs58056613	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs59755477	0.84[EUR][1000 genomes]
rs59773478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60194813	0.80[AFR][1000 genomes]
rs61318325	0.80[AFR][1000 genomes]
rs6563107	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7318984	0.96[EUR][1000 genomes]
rs7329633	0.88[EUR][1000 genomes]
rs7330804	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7331979	0.84[AFR][1000 genomes]
rs73548951	0.80[EUR][1000 genomes]
rs73548955	0.80[EUR][1000 genomes]
rs73551558	0.80[EUR][1000 genomes]
rs73553448	0.80[AFR][1000 genomes]
rs73564681	0.92[EUR][1000 genomes]
rs73566422	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73566424	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73566435	1.00[EUR][1000 genomes]
rs73566454	1.00[EUR][1000 genomes]
rs73566469	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7491258	0.80[EUR][1000 genomes]
rs7984159	0.80[EUR][1000 genomes]
rs7985697	0.80[EUR][1000 genomes]
rs7992181	1.00[EUR][1000 genomes]
rs7997554	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8000870	0.80[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79980800-80007200	Weak transcription	Spleen	Spleen
2	chr13:79981000-79991200	Weak transcription	Pancreas	Pancrea
3	chr13:79981000-79997400	Weak transcription	Lung	lung
4	chr13:79981000-79997600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:79981000-79998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:79981000-79998000	Weak transcription	Ovary	ovary
7	chr13:79981000-80007200	Weak transcription	Aorta	Aorta
8	chr13:79981200-79991000	Weak transcription	Placenta	Placenta
9	chr13:79981200-79995800	Weak transcription	HSMMtube	muscle
10	chr13:79981200-79997600	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:79981200-80010200	Weak transcription	Right Ventricle	heart
12	chr13:79981400-79997800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr13:79981400-80000200	Weak transcription	Psoas Muscle	Psoas
14	chr13:79981600-79990400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr13:79981600-79990800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:79981600-79992000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr13:79981600-79992200	Weak transcription	HSMM	muscle
18	chr13:79981600-79993600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:79981600-79993600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:79981600-79993600	Weak transcription	Adipose Nuclei	Adipose
21	chr13:79981600-79993600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:79981600-79993800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr13:79981600-79996800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr13:79981600-79997600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:79981600-79997600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr13:79981600-79998000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:79981600-79998200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr13:79981600-79998200	Weak transcription	Brain Hippocampus Middle	brain
29	chr13:79981800-79993600	Weak transcription	Primary B cells from cord blood	blood
30	chr13:79981800-80001600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:79982000-79991000	Weak transcription	Brain Germinal Matrix	brain
32	chr13:79982000-79992800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:79982000-79997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:79982200-79990600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr13:79982200-79990800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr13:79982200-79991200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:79982200-79997600	Weak transcription	NHEK	skin
38	chr13:79982200-79998000	Weak transcription	Brain Anterior Caudate	brain
39	chr13:79982400-79997600	Weak transcription	Fetal Lung	lung
40	chr13:79982600-79991200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr13:79982600-79992000	Weak transcription	HMEC	breast
42	chr13:79982600-80006400	Weak transcription	Gastric	stomach
43	chr13:79982800-79990800	Weak transcription	K562	blood
44	chr13:79982800-79997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:79982800-79998400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr13:79982800-79998600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:79983000-79998600	Weak transcription	Dnd41	blood
48	chr13:79983600-80003400	Weak transcription	GM12878-XiMat	blood
49	chr13:79984200-79997600	Weak transcription	Liver	Liver
50	chr13:79985800-79994200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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