Variant report

Variant	rs2359940
Chromosome Location	chr4:151168929-151168930
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	chr4:151164204..151165925-chr4:151167206..151169474,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10015813	0.87[AMR][1000 genomes]
rs1002006	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10471053	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17631799	0.87[AMR][1000 genomes]
rs17631959	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17631971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17632215	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs17688421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004467	0.87[AMR][1000 genomes]
rs2054271	0.95[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.94[AMR][1000 genomes]
rs2305979	1.00[CEU][hapmap];0.88[TSI][hapmap];0.97[EUR][1000 genomes]
rs28713632	0.87[AMR][1000 genomes]
rs35861079	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4696635	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73858508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs922121	0.84[JPT][hapmap];0.90[AMR][1000 genomes]
rs922122	0.90[AMR][1000 genomes]
rs9999860	0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022132	chr4:151162048-151183859	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151138800-151169800	Weak transcription	Spleen	Spleen
2	chr4:151139600-151177400	Weak transcription	Brain Substantia Nigra	brain
3	chr4:151139600-151181000	Weak transcription	Brain Angular Gyrus	brain
4	chr4:151140000-151175000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:151142200-151172200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:151146200-151169200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:151150800-151170800	Weak transcription	Pancreas	Pancrea
8	chr4:151152400-151176400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:151156200-151173000	Weak transcription	Fetal Intestine Small	intestine
10	chr4:151156400-151169000	Weak transcription	Adipose Nuclei	Adipose
11	chr4:151156400-151169400	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:151156400-151170600	Weak transcription	Right Ventricle	heart
13	chr4:151156400-151174200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:151157600-151169400	Weak transcription	Left Ventricle	heart
15	chr4:151157600-151170800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:151158000-151181000	Weak transcription	Fetal Heart	heart
17	chr4:151158200-151173000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:151158800-151170200	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:151159000-151173000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:151160000-151185400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:151160400-151169000	Weak transcription	NHLF	lung
22	chr4:151161200-151173000	Weak transcription	Brain Anterior Caudate	brain
23	chr4:151161600-151170800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:151161600-151177400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:151164000-151177400	Weak transcription	Placenta	Placenta
26	chr4:151164200-151169400	Weak transcription	Aorta	Aorta
27	chr4:151164200-151169600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:151165200-151170400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:151165800-151170800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:151166000-151169000	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:151166000-151169400	Weak transcription	HepG2	liver
32	chr4:151166200-151175000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:151166400-151176400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:151166400-151176600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:151166400-151177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:151166400-151178000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:151166400-151181000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:151166400-151199000	Weak transcription	Gastric	stomach
39	chr4:151166600-151170800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:151166600-151173000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:151166600-151173200	Weak transcription	Fetal Lung	lung
42	chr4:151166600-151173600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:151166600-151175000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:151166600-151181000	Weak transcription	Fetal Kidney	kidney
45	chr4:151167400-151169800	Strong transcription	HSMM	muscle
46	chr4:151167400-151172000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr4:151167600-151169000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr4:151167600-151169000	Genic enhancers	A549	lung
49	chr4:151167600-151171000	Strong transcription	HSMMtube	muscle
50	chr4:151167600-151171400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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