Variant report

Variant	rs6573653
Chromosome Location	chr14:24735361-24735362
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24734952..24736987-chr14:24899499..24901815,2	MCF-7	breast:
2	chr14:24731417..24734769-chr14:24734845..24736796,3	K562	blood:
3	chr14:24731299..24737661-chr14:24737668..24742603,15	K562	blood:

Variant related genes	Relation type
ENSG00000139899	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000100949	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11622118	0.98[ASN][1000 genomes]
rs14193	0.83[JPT][hapmap]
rs2075530	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2180196	0.87[MEX][hapmap]
rs2281473	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2295311	0.98[ASN][1000 genomes]
rs2295315	0.98[ASN][1000 genomes]
rs2877612	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814813	0.97[ASN][1000 genomes]
rs3825585	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3940231	0.83[JPT][hapmap]
rs6573651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729421	0.83[JPT][hapmap]
rs941505	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs6573653	MYH6	cis	cerebellum	SCAN
rs6573653	RABGGTA	cis	multi-tissue	Pritchard
rs6573653	DHRS1	cis	parietal	SCAN
rs6573653	TSSK4	cis	parietal	SCAN
rs6573653	FAM158A	cis	parietal	SCAN
rs6573653	LRRC16B	cis	parietal	SCAN
rs6573653	ADCY4	cis	cerebellum	SCAN
rs6573653	DHRS1	cis	cerebellum	SCAN
rs6573653	ANG	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24712600-24740000	Weak transcription	Small Intestine	intestine
2	chr14:24713000-24740000	Weak transcription	Right Atrium	heart
3	chr14:24713200-24735400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:24716400-24735800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:24716400-24739800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:24716600-24739800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:24717200-24736000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:24720000-24739600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:24721200-24739400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:24721600-24735600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:24721600-24739800	Weak transcription	HUVEC	blood vessel
12	chr14:24722600-24740000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:24725800-24737800	Weak transcription	Psoas Muscle	Psoas
14	chr14:24726200-24739800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:24726800-24739800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:24727800-24739800	Weak transcription	K562	blood
17	chr14:24728400-24739800	Strong transcription	Fetal Intestine Small	intestine
18	chr14:24728600-24736800	Strong transcription	Spleen	Spleen
19	chr14:24728800-24735600	Weak transcription	Ovary	ovary
20	chr14:24729000-24736200	Weak transcription	Fetal Lung	lung
21	chr14:24729000-24738000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:24729000-24739800	Weak transcription	NH-A	brain
23	chr14:24729000-24740000	Weak transcription	HSMM	muscle
24	chr14:24729200-24738800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:24729600-24739600	Strong transcription	Fetal Stomach	stomach
26	chr14:24729600-24739800	Weak transcription	A549	lung
27	chr14:24729800-24739800	Weak transcription	Hela-S3	cervix
28	chr14:24731400-24736800	Weak transcription	Stomach Mucosa	stomach
29	chr14:24731800-24739200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:24732000-24739400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:24732000-24739600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr14:24732000-24739600	Strong transcription	Lung	lung
33	chr14:24732600-24740000	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:24732800-24735400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:24732800-24739000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:24732800-24739000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr14:24732800-24739600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:24732800-24739800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:24733200-24737200	Strong transcription	Brain Substantia Nigra	brain
40	chr14:24733200-24739200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr14:24733200-24739400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:24733200-24739400	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:24733200-24740000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:24733400-24735400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:24733400-24739200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr14:24733600-24736000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:24733600-24736800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:24733800-24737200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:24733800-24739000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:24733800-24739200	Strong transcription	Rectal Mucosa Donor 31	rectum

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