Variant report

Variant	rs556583530
Chromosome Location	chr4:7021639-7021640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7019880..7022246-chr4:7042172..7045634,3	K562	blood:
2	chr4:7021136..7024360-chr4:7026095..7028817,3	K562	blood:
3	chr4:6722979..6724789-chr4:7021205..7023795,2	MCF-7	breast:
4	chr4:7019569..7021853-chr4:7034145..7036760,2	MCF-7	breast:
5	chr4:6927466..6930094-chr4:7020098..7022400,2	MCF-7	breast:
6	chr4:7019555..7022636-chr4:7025338..7028522,3	K562	blood:
7	chr4:7015008..7018342-chr4:7019176..7022360,4	K562	blood:

Variant related genes	Relation type
ENSG00000173013	Chromatin interaction
ENSG00000173011	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv593547	chr4:7002344-7032180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription 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	32 gene(s)	inside rSNPs	diseases
9	nsv878532	chr4:7010504-7055603	Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	esv2105831	chr4:7021269-7021673	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3364249	chr4:7021401-7021671	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3328455	chr4:7021489-7021848	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6991000-7021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:6994000-7035600	Strong transcription	Fetal Stomach	stomach
3	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
4	chr4:6994200-7035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:6995800-7032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:6996000-7035200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:6996400-7034800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:7000600-7034400	Strong transcription	Dnd41	blood
9	chr4:7001400-7034600	Strong transcription	Primary T cells from cord blood	blood
10	chr4:7001600-7035200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr4:7001600-7035400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr4:7001800-7029000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr4:7001800-7035000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:7002000-7034400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:7002200-7035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:7002400-7034400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:7003600-7032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:7006600-7021800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:7007600-7022000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:7008000-7022200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:7008200-7022000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:7008200-7034600	Strong transcription	Fetal Brain Female	brain
23	chr4:7008200-7035200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr4:7008400-7022800	Strong transcription	NHEK	skin
25	chr4:7008400-7035400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:7008400-7035400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:7008800-7035000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr4:7009800-7035200	Strong transcription	Fetal Intestine Large	intestine
29	chr4:7009800-7035600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr4:7010000-7022200	Weak transcription	Hela-S3	cervix
31	chr4:7010000-7034600	Strong transcription	Adipose Nuclei	Adipose
32	chr4:7010200-7024400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:7010200-7032600	Weak transcription	Stomach Mucosa	stomach
34	chr4:7010800-7035000	Strong transcription	Esophagus	oesophagus
35	chr4:7011200-7024400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:7011600-7036600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr4:7011600-7043600	Weak transcription	Psoas Muscle	Psoas
38	chr4:7013200-7044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr4:7014200-7032800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:7014400-7034400	Strong transcription	Fetal Thymus	thymus
41	chr4:7014600-7028400	Strong transcription	Colonic Mucosa	Colon
42	chr4:7014600-7034600	Strong transcription	Thymus	Thymus
43	chr4:7014800-7022600	Strong transcription	NHLF	lung
44	chr4:7014800-7023200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:7014800-7029800	Strong transcription	Pancreas	Pancrea
46	chr4:7015400-7023600	Weak transcription	HSMM	muscle
47	chr4:7015400-7026800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:7016000-7031600	Weak transcription	HUVEC	blood vessel
49	chr4:7016400-7026600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:7016600-7029200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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