Variant report

Variant	rs7672647
Chromosome Location	chr4:56228041-56228042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
2	chr4:56213251..56215609-chr4:56227634..56229656,2	MCF-7	breast:
3	chr4:56227263..56230972-chr4:56267777..56269959,3	K562	blood:
4	chr4:56222050..56228109-chr4:56258616..56264786,10	MCF-7	breast:
5	chr4:56228037..56229784-chr4:56252686..56254861,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134851	Chromatin interaction
ENSG00000249700	Chromatin interaction
ENSG00000273257	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11721546	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11724565	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11733128	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs471546	0.82[ASN][1000 genomes]
rs4864984	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs491381	0.82[ASN][1000 genomes]
rs504836	0.82[ASN][1000 genomes]
rs505861	0.82[ASN][1000 genomes]
rs532768	0.82[ASN][1000 genomes]
rs534654	0.82[ASN][1000 genomes]
rs549564	0.82[ASN][1000 genomes]
rs566240	0.82[ASN][1000 genomes]
rs6554276	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66630638	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs711533	0.82[ASN][1000 genomes]
rs73236137	0.82[ASN][1000 genomes]
rs7664496	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7673897	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7692795	0.82[ASN][1000 genomes]
rs7697835	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213200-56230000	Weak transcription	Fetal Kidney	kidney
2	chr4:56213400-56233600	Weak transcription	Fetal Intestine Large	intestine
3	chr4:56213600-56229200	Weak transcription	Fetal Intestine Small	intestine
4	chr4:56213600-56230200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:56213600-56230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:56213600-56242600	Weak transcription	Gastric	stomach
7	chr4:56213800-56229800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:56213800-56229800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:56213800-56229800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:56213800-56231800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:56213800-56233600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:56213800-56239000	Weak transcription	Brain Germinal Matrix	brain
13	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
14	chr4:56214000-56229800	Weak transcription	Liver	Liver
15	chr4:56214000-56229800	Weak transcription	Fetal Thymus	thymus
16	chr4:56214000-56229800	Weak transcription	Thymus	Thymus
17	chr4:56214000-56230200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:56214000-56231000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:56214000-56237800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:56214000-56241800	Weak transcription	Colonic Mucosa	Colon
21	chr4:56214400-56247600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:56214600-56230200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:56215000-56229800	Weak transcription	Brain Angular Gyrus	brain
24	chr4:56215000-56235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:56219200-56230000	Weak transcription	Fetal Lung	lung
26	chr4:56219400-56238400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:56219600-56229800	Weak transcription	Dnd41	blood
28	chr4:56219600-56231000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:56220200-56231200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:56220400-56229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:56220400-56230200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:56220800-56241400	Weak transcription	Primary T cells from cord blood	blood
33	chr4:56221000-56230000	Weak transcription	Fetal Brain Female	brain
34	chr4:56221800-56230200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:56223400-56231400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:56225400-56231200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:56225600-56228200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:56225600-56229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:56225600-56230000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:56225600-56235400	Weak transcription	Right Ventricle	heart
41	chr4:56225600-56237800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:56225800-56228200	Strong transcription	Fetal Stomach	stomach
43	chr4:56225800-56230200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:56225800-56231600	Weak transcription	Spleen	Spleen
45	chr4:56225800-56233000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:56225800-56235600	Weak transcription	Aorta	Aorta
47	chr4:56225800-56236800	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:56225800-56237400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:56225800-56238400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr4:56225800-56244800	Weak transcription	Duodenum Mucosa	Duodenum

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