Variant report

Variant	rs9324063
Chromosome Location	chr14:104006693-104006694
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103964404..103966727-chr14:104006569..104008780,2	K562	blood:
2	chr1:935421..935993-chr14:104006660..104007419,2	Hela-S3	cervix:
3	chr14:103966852..103969165-chr14:104004136..104006723,2	MCF-7	breast:
4	chr14:104005381..104007221-chr14:104349678..104351959,2	K562	blood:
5	chr14:104006138..104009668-chr14:104023103..104027300,4	K562	blood:
6	chr14:104005293..104008024-chr14:104095001..104096983,2	K562	blood:

Variant related genes	Relation type
ENSG00000126214	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000188290	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11160752	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12147596	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12880077	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12880224	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12891360	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12893668	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2021965	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2065015	0.80[CHD][hapmap]
rs2236281	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2246490	0.90[CHD][hapmap];0.84[JPT][hapmap]
rs2296487	0.96[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2403194	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2756138	0.96[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2765041	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34235720	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7140558	0.82[EUR][1000 genomes]
rs7161305	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8009905	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
11	esv1850440	chr14:103979953-104007555	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv902302	chr14:103979953-104018455	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
13	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
14	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
15	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	nsv827068	chr14:103982866-104021347	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	esv1835145	chr14:103984294-104014935	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
18	esv1851656	chr14:103987140-104007555	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
19	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
20	nsv566021	chr14:103989639-104012982	Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
21	esv1819920	chr14:103989971-104018096	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
22	nsv9170	chr14:103994260-104017971	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
23	esv1825092	chr14:104005264-104022171	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9324063	MARK3	cis	cerebellum	SCAN
rs9324063	C14orf153	cis	parietal	SCAN
rs9324063	ZFYVE21	cis	cerebellum	SCAN
rs9324063	C14orf153	cis	cerebellum	SCAN
rs9324063	C14orf172	cis	multi-tissue	Pritchard
rs9324063	INF2	cis	cerebellum	SCAN
rs9324063	TRMT61A	cis	lymphoblastoid	seeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103996800-104023400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:103997600-104006800	Weak transcription	Small Intestine	intestine
3	chr14:103997600-104013000	Weak transcription	K562	blood
4	chr14:103999400-104006800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:104000600-104008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:104001400-104007600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:104002000-104006800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:104002000-104008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:104002000-104012800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:104002200-104006800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:104002200-104008200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:104002200-104022600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:104002400-104009800	Weak transcription	Liver	Liver
14	chr14:104002400-104013000	Weak transcription	Dnd41	blood
15	chr14:104002800-104023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:104003000-104008000	Weak transcription	Fetal Brain Female	brain
17	chr14:104003000-104008800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:104003000-104018400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:104003200-104010600	Enhancers	NHDF-Ad	bronchial
20	chr14:104003400-104010000	Weak transcription	Spleen	Spleen
21	chr14:104003600-104006800	Enhancers	NH-A	brain
22	chr14:104003800-104009000	Enhancers	Fetal Muscle Leg	muscle
23	chr14:104004000-104006800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:104004000-104008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:104004000-104008800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:104004200-104006800	Weak transcription	Fetal Intestine Large	intestine
27	chr14:104004200-104008200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:104004200-104011400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:104004400-104006800	Enhancers	Brain Hippocampus Middle	brain
30	chr14:104004400-104008400	Enhancers	Brain Cingulate Gyrus	brain
31	chr14:104004400-104011400	Enhancers	Right Ventricle	heart
32	chr14:104004600-104006800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr14:104004600-104006800	Enhancers	HMEC	breast
34	chr14:104004600-104008000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr14:104004600-104008200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:104004600-104008200	Enhancers	Brain Substantia Nigra	brain
37	chr14:104004600-104008400	Enhancers	Colon Smooth Muscle	Colon
38	chr14:104004600-104011400	Enhancers	Adipose Nuclei	Adipose
39	chr14:104004600-104013600	Enhancers	Brain Angular Gyrus	brain
40	chr14:104004800-104008200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr14:104004800-104008800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:104004800-104010000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr14:104005000-104006800	Enhancers	Brain Germinal Matrix	brain
44	chr14:104005000-104008800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:104005000-104008800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:104005200-104006800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr14:104005400-104006800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr14:104005400-104007800	Weak transcription	Pancreas	Pancrea
49	chr14:104005400-104009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:104005400-104011400	Enhancers	Ovary	ovary

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