Variant report

Variant	rs7340880
Chromosome Location	chr4:48493388-48493389
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48492886..48494734-chr4:48535449..48537970,2	K562	blood:
2	chr4:48489612..48492154-chr4:48493154..48495602,2	K562	blood:

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

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

rs_ID	r²[population]
rs10031120	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13125511	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17472113	0.88[ASN][1000 genomes]
rs4413478	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6812622	0.82[ASN][1000 genomes]
rs7668401	0.90[ASN][1000 genomes]
rs7694862	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9993088	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv879008	chr4:48473439-48496804	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv879009	chr4:48476539-48494546	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48487200-48505800	Weak transcription	A549	lung
2	chr4:48491400-48493800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr4:48491400-48494400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr4:48491400-48495400	Weak transcription	K562	blood
5	chr4:48491600-48493400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr4:48491600-48493600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr4:48491600-48493800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr4:48491600-48493800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:48491600-48494000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:48491800-48493400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:48491800-48493400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
12	chr4:48491800-48493600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr4:48491800-48493800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr4:48491800-48493800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:48491800-48494200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr4:48492000-48493400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
17	chr4:48492000-48493800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr4:48492200-48493600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:48492200-48493800	ZNF genes & repeats	Spleen	Spleen
20	chr4:48492400-48493400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:48492400-48493400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:48492400-48493400	Bivalent/Poised TSS	Left Ventricle	heart
23	chr4:48492400-48500800	Weak transcription	Brain Substantia Nigra	brain
24	chr4:48492600-48493400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr4:48492600-48493400	Enhancers	Primary hematopoietic stem cells	blood
26	chr4:48492600-48493400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr4:48492600-48493400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr4:48492600-48493400	Active TSS	Right Atrium	heart
29	chr4:48492600-48493600	Enhancers	Pancreas	Pancrea
30	chr4:48492600-48497800	Weak transcription	Aorta	Aorta
31	chr4:48492600-48510600	Weak transcription	HepG2	liver
32	chr4:48492800-48493600	Enhancers	Gastric	stomach
33	chr4:48492800-48493800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
34	chr4:48492800-48500200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:48492800-48500800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:48493000-48493400	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:48493000-48493400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:48493000-48493400	Bivalent/Poised TSS	Thymus	Thymus
39	chr4:48493000-48493400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr4:48493000-48493600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:48493000-48493600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr4:48493000-48493800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
43	chr4:48493000-48494400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr4:48493200-48493400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:48493200-48493400	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:48493200-48493400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
47	chr4:48493200-48493400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
48	chr4:48493200-48493400	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:48493200-48493400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:48493200-48493400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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