Variant report

Variant	rs73398430
Chromosome Location	chr6:24857986-24857987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24855755..24858612-chr6:24860747..24863062,2	K562	blood:
2	chr6:24857230..24860710-chr6:24861269..24864653,3	K562	blood:
3	chr6:24857285..24860038-chr6:25061780..25063789,2	K562	blood:

Variant related genes	Relation type
ENSG00000230372	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3763224	0.93[AFR][1000 genomes]
rs73398426	1.00[AMR][1000 genomes]
rs73398445	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398447	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398453	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398456	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398457	1.00[AMR][1000 genomes]
rs73398459	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24777000-24859600	Weak transcription	Psoas Muscle	Psoas
2	chr6:24804800-24858200	Weak transcription	Gastric	stomach
3	chr6:24832400-24859600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:24839600-24858800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:24843800-24858400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:24843800-24879400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:24844200-24859800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:24844600-24858200	Weak transcription	Right Ventricle	heart
9	chr6:24844600-24860200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:24844600-24873200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:24846200-24858200	Weak transcription	Esophagus	oesophagus
12	chr6:24846200-24873400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:24846800-24866000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:24847000-24876600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:24848400-24858200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:24848400-24860000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:24848600-24859600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:24849000-24864600	Weak transcription	Brain Germinal Matrix	brain
19	chr6:24849200-24858200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:24850000-24858000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:24850400-24858800	Weak transcription	Liver	Liver
22	chr6:24850800-24864600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:24851000-24858200	Weak transcription	Left Ventricle	heart
24	chr6:24854200-24858000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:24854400-24858200	Genic enhancers	Primary B cells from cord blood	blood
26	chr6:24854400-24869400	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr6:24854800-24858200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:24854800-24858400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:24855200-24895000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
30	chr6:24855400-24858400	Genic enhancers	Primary T cells from cord blood	blood
31	chr6:24855600-24866000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:24855800-24858000	Genic enhancers	Dnd41	blood
33	chr6:24855800-24858400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:24855800-24858800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:24855800-24858800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr6:24855800-24858800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:24855800-24859800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:24855800-24863800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:24855800-24874200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:24856000-24858200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr6:24856000-24858600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:24856000-24858800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:24856000-24861400	Genic enhancers	Primary monocytes fromperipheralblood	blood
44	chr6:24856000-24863800	Genic enhancers	Fetal Thymus	thymus
45	chr6:24856000-24872200	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr6:24856200-24858000	Weak transcription	HMEC	breast
47	chr6:24856200-24858200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:24856200-24858400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:24856200-24876400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:24856200-24882400	Weak transcription	NHLF	lung

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