Variant report

Variant	rs61016468
Chromosome Location	chr4:147229808-147229809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147227740..147230606-chr4:147233012..147234807,2	K562	blood:
2	chr4:147228131..147230606-chr4:147231821..147234512,2	K562	blood:
3	chr4:147228585..147230437-chr4:147230480..147232444,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10519784	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10519786	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10519805	0.84[AMR][1000 genomes]
rs16998677	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17021340	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17021345	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17021355	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17021362	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17021365	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17021409	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2291379	0.96[AMR][1000 genomes]
rs4561947	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57305184	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58203372	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58738547	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58800297	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58997046	0.84[AMR][1000 genomes]
rs59524631	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59758996	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59811977	0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59890707	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59916828	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59937090	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60175042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60862748	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61219941	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3451660	chr4:147225135-147271246	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3443192	chr4:147225234-147271217	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3468025	chr4:147225279-147271172	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3468026	chr4:147225279-147271172	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:147180400-147233200	Weak transcription	Liver	Liver
3	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:147208200-147232800	Weak transcription	Aorta	Aorta
5	chr4:147208200-147234200	Weak transcription	Lung	lung
6	chr4:147208200-147247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:147208400-147249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:147208400-147254600	Weak transcription	Gastric	stomach
9	chr4:147208600-147254800	Weak transcription	Adipose Nuclei	Adipose
10	chr4:147209200-147249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:147209400-147245600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:147212800-147264200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:147215600-147254800	Weak transcription	Primary T cells from cord blood	blood
14	chr4:147222800-147235800	Weak transcription	Esophagus	oesophagus
15	chr4:147224200-147235200	Weak transcription	Psoas Muscle	Psoas
16	chr4:147224400-147230600	Weak transcription	GM12878-XiMat	blood
17	chr4:147225600-147230400	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:147225600-147245600	Weak transcription	Primary B cells from cord blood	blood
19	chr4:147227800-147231000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:147228200-147232000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:147228400-147230800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:147228400-147235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:147229200-147230800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:147229400-147230600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:147229400-147230800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:147229400-147231800	Weak transcription	NH-A	brain
27	chr4:147229600-147230400	Enhancers	Fetal Brain Female	brain
28	chr4:147229600-147257400	Weak transcription	Ovary	ovary
29	chr4:147229800-147230400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:147229800-147230600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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