Variant report

Variant	rs4613247
Chromosome Location	chr2:10110159-10110160
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10108326..10110432-chr2:10178116..10179884,2	K562	blood:
2	chr2:10102444..10109047-chr2:10109192..10115495,9	MCF-7	breast:
3	chr2:10100605..10103571-chr2:10109016..10111061,2	MCF-7	breast:
4	chr2:10109306..10112948-chr2:10113189..10116781,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134317	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11884250	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888501	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893694	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902268	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902457	1.00[ASN][1000 genomes]
rs16867251	1.00[ASN][1000 genomes]
rs16867254	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867256	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867257	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867261	1.00[ASN][1000 genomes]
rs1820964	0.83[AFR][1000 genomes]
rs2011516	0.83[AFR][1000 genomes]
rs3791758	0.83[AFR][1000 genomes]
rs41264185	1.00[ASN][1000 genomes]
rs41264203	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496316	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55780001	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59658303	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60026782	1.00[ASN][1000 genomes]
rs60035701	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61221335	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726950	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730919	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731160	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733974	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734239	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6735658	1.00[ASN][1000 genomes]
rs6741117	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744044	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744047	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754701	1.00[ASN][1000 genomes]
rs73913930	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7601896	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS 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 miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10092600-10112600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:10092600-10113400	Weak transcription	Left Ventricle	heart
3	chr2:10092800-10110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:10093200-10110600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:10093600-10112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:10094800-10110400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:10094800-10124400	Weak transcription	Fetal Intestine Large	intestine
8	chr2:10095000-10112600	Weak transcription	Hela-S3	cervix
9	chr2:10099000-10115400	Strong transcription	Liver	Liver
10	chr2:10101000-10113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:10101000-10117000	Strong transcription	HepG2	liver
12	chr2:10101400-10110400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:10101400-10110400	Weak transcription	Fetal Stomach	stomach
14	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:10101600-10110600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:10101600-10113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:10101600-10116400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:10101800-10114800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:10102200-10110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:10102400-10116600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:10104800-10110600	Weak transcription	Psoas Muscle	Psoas
25	chr2:10104800-10112600	Weak transcription	Fetal Intestine Small	intestine
26	chr2:10104800-10112600	Weak transcription	Gastric	stomach
27	chr2:10105600-10111000	Weak transcription	Fetal Kidney	kidney
28	chr2:10106000-10110400	Weak transcription	Adipose Nuclei	Adipose
29	chr2:10106000-10112600	Weak transcription	Pancreas	Pancrea
30	chr2:10106000-10119800	Weak transcription	Dnd41	blood
31	chr2:10106200-10110400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:10107400-10111000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:10107800-10110400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:10107800-10112400	Weak transcription	Stomach Mucosa	stomach
35	chr2:10108000-10110200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:10108400-10110400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:10109000-10112000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:10109200-10110400	Weak transcription	Ovary	ovary
39	chr2:10109400-10110800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:10109400-10112400	Weak transcription	Esophagus	oesophagus
41	chr2:10109400-10112600	Weak transcription	K562	blood
42	chr2:10109400-10115600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:10109600-10110400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:10109600-10112600	Weak transcription	Lung	lung
45	chr2:10109600-10112800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:10109600-10112800	Weak transcription	Fetal Thymus	thymus
47	chr2:10109800-10110200	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:10110000-10110400	Weak transcription	Placenta	Placenta

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