Variant report

Variant	rs59500540
Chromosome Location	chr2:174077289-174077290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173911445..173914009-chr2:174074635..174077598,2	K562	blood:
2	chr2:174075523..174078423-chr2:174265356..174267374,2	K562	blood:
3	chr2:174065533..174067512-chr2:174076722..174079013,2	MCF-7	breast:
4	chr2:174076030..174078880-chr2:174080707..174082990,2	K562	blood:
5	chr2:173939918..173942569-chr2:174074502..174077579,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10497402	0.82[EUR][1000 genomes]
rs11680555	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11687539	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11690597	0.82[EUR][1000 genomes]
rs16861363	0.80[EUR][1000 genomes]
rs17710065	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17710437	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2043950	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2358088	0.86[ASN][1000 genomes]
rs3754739	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769159	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3769162	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769163	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769173	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4399689	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4972532	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56980119	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61264428	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62175824	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs734993	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73974105	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs746179	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7567355	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7575319	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7601536	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs935006	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs935007	0.82[EUR][1000 genomes];0.84[ASN][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59500540	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
2	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
3	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
4	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
5	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:174053400-174078400	Weak transcription	Gastric	stomach
7	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
9	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
10	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
11	chr2:174061000-174082000	Weak transcription	Fetal Brain Female	brain
12	chr2:174061200-174097600	Weak transcription	Lung	lung
13	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:174061800-174080200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:174063600-174097600	Weak transcription	HSMM	muscle
18	chr2:174063800-174081600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:174063800-174083200	Weak transcription	GM12878-XiMat	blood
20	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
21	chr2:174064200-174082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:174064200-174083000	Weak transcription	HepG2	liver
23	chr2:174064200-174083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:174064600-174082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:174064600-174083200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:174069400-174081800	Weak transcription	Ovary	ovary
28	chr2:174069400-174082200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:174069400-174097000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:174069400-174097600	Weak transcription	Primary B cells from cord blood	blood
31	chr2:174069600-174096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:174070000-174081800	Weak transcription	Fetal Brain Male	brain
33	chr2:174071800-174094200	Weak transcription	Fetal Thymus	thymus
34	chr2:174072000-174078600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:174072200-174095400	Weak transcription	Right Atrium	heart
36	chr2:174073000-174078000	Weak transcription	Brain Germinal Matrix	brain
37	chr2:174074200-174077400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:174074200-174077400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:174074400-174077400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:174074600-174077600	Strong transcription	Fetal Intestine Small	intestine
41	chr2:174075000-174078200	Weak transcription	HMEC	breast
42	chr2:174075200-174078400	Strong transcription	Left Ventricle	heart
43	chr2:174075400-174078400	Weak transcription	Liver	Liver
44	chr2:174075400-174082000	Weak transcription	NHLF	lung
45	chr2:174075400-174097600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:174075600-174078800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:174075600-174080800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:174075600-174083000	Weak transcription	Fetal Kidney	kidney
49	chr2:174075800-174081600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:174075800-174081600	Weak transcription	Fetal Lung	lung

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