Variant report

Variant	rs62309656
Chromosome Location	chr4:74017748-74017749
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	chr4:74016200..74018439-chr4:74124408..74127289,2	K562	blood:
2	chr4:74009783..74018801-chr4:74117009..74125073,12	K562	blood:

Variant related genes	Relation type
ENSG00000132466	Chromatin interaction
ENSG00000250220	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56091772	1.00[AFR][1000 genomes]
rs62309463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62309630	1.00[AFR][1000 genomes]
rs62309631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62311861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62311892	1.00[AMR][1000 genomes]
rs62311896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62311898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1014088	chr4:73817769-74031884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv537138	chr4:73817769-74031884	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
2	chr4:73952800-74023000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:73955800-74019000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:73955800-74022400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr4:73969200-74030200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:73969600-74020000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:73970800-74040800	Weak transcription	Stomach Mucosa	stomach
8	chr4:73971200-74020000	Strong transcription	Dnd41	blood
9	chr4:73971800-74022600	Strong transcription	Liver	Liver
10	chr4:73971800-74032200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:73978800-74029400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:73984600-74022400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:73985000-74031200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:73991000-74018400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:73993800-74018600	Strong transcription	Placenta	Placenta
16	chr4:73994800-74029400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:73996200-74025000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:73996400-74020000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:73996400-74023000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr4:73996600-74020200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr4:73996600-74023000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:73996600-74025000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:73997000-74023200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:73999200-74022400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:73999400-74022600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:74000600-74018800	Strong transcription	HepG2	liver
27	chr4:74003000-74018600	Strong transcription	K562	blood
28	chr4:74004000-74018800	Strong transcription	GM12878-XiMat	blood
29	chr4:74004000-74019800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:74004200-74021800	Strong transcription	HMEC	breast
31	chr4:74004400-74019800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr4:74004600-74022400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr4:74004600-74022600	Strong transcription	Fetal Intestine Large	intestine
34	chr4:74004800-74019000	Strong transcription	Primary B cells from cord blood	blood
35	chr4:74004800-74019800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:74004800-74031600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:74005000-74018400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr4:74005000-74018400	Strong transcription	HUVEC	blood vessel
39	chr4:74005000-74018600	Strong transcription	Adipose Nuclei	Adipose
40	chr4:74005000-74019800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:74005200-74020000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:74005600-74018600	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr4:74005600-74034400	Weak transcription	Esophagus	oesophagus
44	chr4:74005800-74018000	Weak transcription	Ovary	ovary
45	chr4:74005800-74035000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:74006000-74024800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr4:74006200-74029200	Strong transcription	HSMM	muscle
48	chr4:74006200-74031200	Weak transcription	Brain Angular Gyrus	brain
49	chr4:74006800-74018000	Weak transcription	Pancreas	Pancrea
50	chr4:74006800-74021800	Weak transcription	Brain Substantia Nigra	brain

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