Variant report

Variant	rs10489132
Chromosome Location	chr4:99950417-99950418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:99950210-99950453	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr4:99950251-99950859	H1-neurons	neurons:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99915586..99918527-chr4:99948157..99950795,3	MCF-7	breast:
2	chr4:99847981..99851053-chr4:99948406..99952030,4	K562	blood:
3	chr4:99913236..99916407-chr4:99949384..99951097,3	K562	blood:
4	chr4:99847981..99851053-chr4:99948406..99952184,4	K562	blood:
5	chr4:99848335..99851171-chr4:99949234..99951103,2	MCF-7	breast:
6	chr4:99915784..99917663-chr4:99948471..99950548,2	MCF-7	breast:
7	chr4:99936341..99939082-chr4:99948157..99950899,3	MCF-7	breast:

No data

Variant related genes	Relation type
METAP1	TF binding region
ENSG00000164024	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000151247	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10489131	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11726503	0.87[CHB][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11737022	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508113	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12513260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55985943	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60067299	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661773	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7683532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7687617	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7694657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99931600-99971400	Weak transcription	Aorta	Aorta
2	chr4:99932600-99969800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:99937600-99966200	Weak transcription	HUVEC	blood vessel
4	chr4:99942200-99969600	Weak transcription	Fetal Brain Female	brain
5	chr4:99942600-99953400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:99942800-99955800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:99942800-99957000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:99943000-99951400	Weak transcription	HMEC	breast
9	chr4:99943000-99959200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:99943200-99950600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr4:99943400-99950600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr4:99943600-99953400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:99943800-99966200	Weak transcription	Adipose Nuclei	Adipose
14	chr4:99944200-99950600	Weak transcription	Primary B cells from cord blood	blood
15	chr4:99944200-99951000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:99944200-99966200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:99944200-99968800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:99944200-99969600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:99944200-99979000	Weak transcription	Colonic Mucosa	Colon
20	chr4:99944200-99979200	Weak transcription	Right Ventricle	heart
21	chr4:99944400-99950800	Weak transcription	NHLF	lung
22	chr4:99944400-99952800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:99944400-99955200	Weak transcription	NH-A	brain
24	chr4:99944400-99955400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:99944400-99958400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr4:99944400-99958800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:99944400-99958800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:99944400-99958800	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:99944400-99959400	Weak transcription	HSMM	muscle
30	chr4:99944400-99965000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr4:99944400-99966400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:99944400-99967200	Weak transcription	Fetal Stomach	stomach
33	chr4:99944400-99971600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:99944400-99979200	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:99945000-99950600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:99945000-99969600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:99945600-99950800	Enhancers	Fetal Intestine Large	intestine
38	chr4:99945600-99951400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:99945600-99957000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:99946000-99976800	Weak transcription	Stomach Mucosa	stomach
41	chr4:99946200-99953600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr4:99946200-99970000	Weak transcription	Brain Anterior Caudate	brain
43	chr4:99946200-99977000	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:99946400-99951000	Weak transcription	Fetal Thymus	thymus
45	chr4:99946400-99969000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:99946400-99969400	Weak transcription	Placenta	Placenta
47	chr4:99946400-99973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:99946400-99979000	Weak transcription	Esophagus	oesophagus
49	chr4:99946600-99964800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:99946600-99970000	Weak transcription	Hela-S3	cervix

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