Variant report

Variant	rs2819467
Chromosome Location	chr14:105459509-105459510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105455144..105457458-chr14:105459475..105461303,3	K562	blood:
2	chr14:105458493..105460483-chr14:105485363..105487582,2	K562	blood:
3	chr14:105458634..105463582-chr14:105484683..105489400,6	MCF-7	breast:
4	chr14:105458493..105461522-chr14:105485363..105489359,4	K562	blood:
5	chr14:105459095..105461565-chr14:105461965..105464056,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140104	Chromatin interaction
ENSG00000170779	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10136020	0.91[AFR][1000 genomes]
rs10136468	0.97[AFR][1000 genomes]
rs10136591	0.97[AFR][1000 genomes]
rs10139800	0.97[AFR][1000 genomes]
rs11846421	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850764	0.97[AFR][1000 genomes]
rs1583854	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595945	0.82[ASN][1000 genomes]
rs1595946	0.82[ASN][1000 genomes]
rs2582566	0.91[ASW][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes]
rs2582571	0.88[AFR][1000 genomes]
rs2582572	0.96[AFR][1000 genomes]
rs2582573	0.83[ASW][hapmap];0.97[LWK][hapmap];0.87[MKK][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes]
rs2819459	0.82[ASN][1000 genomes]
rs2819465	0.91[ASW][hapmap];0.94[LWK][hapmap];0.87[MKK][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs2819466	0.94[AFR][1000 genomes]
rs2841279	1.00[MEX][hapmap]
rs28844034	0.97[AFR][1000 genomes]
rs3803320	1.00[CHB][hapmap]
rs56879552	0.83[ASN][1000 genomes]
rs56975679	0.99[AFR][1000 genomes]
rs57029322	0.83[ASN][1000 genomes]
rs57510708	0.83[ASN][1000 genomes]
rs58782219	0.91[ASN][1000 genomes]
rs59870288	0.83[ASN][1000 genomes]
rs59917589	1.00[ASN][1000 genomes]
rs60317283	0.83[ASN][1000 genomes]
rs60664931	0.91[ASN][1000 genomes]
rs7141355	0.93[AFR][1000 genomes]
rs73363371	0.97[AFR][1000 genomes]
rs73363379	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv1036224	chr14:105404755-105470333	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv902420	chr14:105410183-105494262	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
15	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
16	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
17	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
18	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
19	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
21	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
22	nsv566151	chr14:105459140-105555396	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription 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
23	nsv456459	chr14:105459140-105617891	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
24	nsv566152	chr14:105459140-105617891	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2819467	NKAP	trans	brain	seeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105452800-105472800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:105452800-105473600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:105452800-105473600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:105453200-105465400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:105453200-105465600	Weak transcription	NH-A	brain
6	chr14:105453200-105473200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:105453200-105475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:105453200-105485400	Weak transcription	Fetal Kidney	kidney
9	chr14:105453400-105459600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:105453400-105460200	Weak transcription	Fetal Heart	heart
11	chr14:105453400-105460400	Weak transcription	Right Atrium	heart
12	chr14:105453400-105464200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:105453400-105472200	Weak transcription	Dnd41	blood
14	chr14:105453400-105472800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:105453400-105473600	Weak transcription	Colonic Mucosa	Colon
16	chr14:105453400-105474000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:105453400-105475600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:105453400-105475800	Weak transcription	K562	blood
19	chr14:105453400-105476200	Weak transcription	NHDF-Ad	bronchial
20	chr14:105453400-105479400	Weak transcription	Brain Substantia Nigra	brain
21	chr14:105453600-105465800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:105453600-105471800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:105453600-105471800	Weak transcription	HMEC	breast
24	chr14:105453800-105462200	Weak transcription	Stomach Mucosa	stomach
25	chr14:105453800-105472000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:105453800-105473400	Weak transcription	Primary B cells from cord blood	blood
27	chr14:105453800-105474000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:105453800-105476400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:105453800-105478400	Weak transcription	Fetal Brain Male	brain
30	chr14:105454000-105460000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:105455400-105461400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:105455400-105462800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:105455400-105463800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:105455400-105463800	Strong transcription	Fetal Stomach	stomach
35	chr14:105455600-105462800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:105455600-105463200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:105455600-105463200	Strong transcription	Brain Anterior Caudate	brain
38	chr14:105455600-105464000	Strong transcription	Fetal Intestine Small	intestine
39	chr14:105455600-105466600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:105455800-105462600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:105455800-105463800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:105456400-105463600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:105456600-105463400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr14:105456600-105463600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:105456800-105462600	Strong transcription	NHEK	skin
46	chr14:105456800-105463600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:105456800-105465400	Strong transcription	A549	lung
48	chr14:105457000-105459800	Weak transcription	Thymus	Thymus
49	chr14:105457000-105462000	Strong transcription	Osteobl	bone
50	chr14:105457600-105459800	Strong transcription	Hela-S3	cervix

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