Variant report

Variant	rs59709800
Chromosome Location	chr1:149940144-149940145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149912344..149915239-chr1:149936515..149940738,3	MCF-7	breast:
2	chr1:149936950..149941153-chr1:149941683..149945948,4	K562	blood:
3	chr1:149939082..149940718-chr1:149951900..149953765,2	K562	blood:

Variant related genes	Relation type
ENSG00000163113	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1556934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs15916	0.83[AMR][1000 genomes]
rs16832989	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832993	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833048	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836857	1.00[AMR][1000 genomes]
rs16837054	1.00[AMR][1000 genomes]
rs16837367	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16837593	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838449	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838646	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841141	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841623	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841697	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56929499	1.00[AMR][1000 genomes]
rs57020352	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57182882	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57513077	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58100431	1.00[AMR][1000 genomes]
rs58137104	0.83[AMR][1000 genomes]
rs58688107	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58777569	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59462540	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59934949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60631776	1.00[AMR][1000 genomes]
rs6664973	1.00[AMR][1000 genomes]
rs6680574	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694482	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6700399	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73004328	1.00[AMR][1000 genomes]
rs73004398	1.00[AMR][1000 genomes]
rs73004400	1.00[AMR][1000 genomes]
rs73006303	1.00[AMR][1000 genomes]
rs73006306	1.00[AMR][1000 genomes]
rs73006313	1.00[AMR][1000 genomes]
rs73006316	1.00[AMR][1000 genomes]
rs73006318	1.00[AMR][1000 genomes]
rs73006327	1.00[AMR][1000 genomes]
rs73006333	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008163	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008167	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008171	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008191	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008199	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008201	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010104	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010113	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010183	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011904	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011906	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011909	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011910	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011912	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011913	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011915	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011930	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73016112	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7543861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149909400-149947000	Weak transcription	Fetal Brain Male	brain
2	chr1:149912600-149941600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:149921200-149942600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:149922400-149951600	Weak transcription	Small Intestine	intestine
5	chr1:149929400-149948400	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr1:149929600-149940200	Strong transcription	HUVEC	blood vessel
7	chr1:149929600-149950200	Strong transcription	Osteobl	bone
8	chr1:149930400-149943600	Strong transcription	Fetal Stomach	stomach
9	chr1:149930800-149959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:149931800-149946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:149931800-149949600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:149931800-149949800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:149932000-149949200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:149932000-149949600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:149932200-149942600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:149933000-149945400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:149933200-149947000	Strong transcription	Fetal Intestine Large	intestine
18	chr1:149933200-149949600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:149934200-149958000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:149934400-149940800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:149934400-149949600	Strong transcription	Fetal Muscle Leg	muscle
22	chr1:149934600-149941200	Weak transcription	Fetal Thymus	thymus
23	chr1:149934600-149947600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:149934600-149949600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:149934600-149949600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:149934800-149941600	Strong transcription	GM12878-XiMat	blood
27	chr1:149935600-149950400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:149935800-149941400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:149935800-149947400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:149935800-149948000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:149935800-149948200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:149935800-149949400	Strong transcription	Left Ventricle	heart
33	chr1:149936000-149941200	Strong transcription	HepG2	liver
34	chr1:149936000-149943600	Strong transcription	Fetal Intestine Small	intestine
35	chr1:149936200-149948400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:149936400-149947600	Strong transcription	NH-A	brain
37	chr1:149936400-149949400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:149936400-149949600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:149936600-149948400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:149937200-149948400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr1:149937200-149949600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr1:149937400-149940200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:149937400-149940400	Strong transcription	HSMMtube	muscle
44	chr1:149937400-149941200	Strong transcription	HSMM	muscle
45	chr1:149937400-149941400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:149937400-149944600	Strong transcription	Colonic Mucosa	Colon
47	chr1:149937400-149948400	Strong transcription	Brain Anterior Caudate	brain
48	chr1:149937600-149946800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:149937800-149945200	Weak transcription	Pancreas	Pancrea
50	chr1:149938000-149944000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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