Variant report

Variant	rs12184962
Chromosome Location	chr14:21671316-21671317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21538648..21540908-chr14:21670664..21672653,2	K562	blood:
2	chr14:21670001..21672457-chr14:21706378..21709017,2	K562	blood:
3	chr14:21667683..21669653-chr14:21671055..21672975,3	K562	blood:
4	chr14:21667283..21669208-chr14:21670633..21672838,2	MCF-7	breast:
5	chr14:21670255..21673011-chr14:21674256..21675777,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPGRIP1-2	chr14:21669731-21672514	ENSG00000247386
2	lnc-HNRNPC-1	chr14:21668238-21673662	ENSG00000258441
3	lnc-HNRNPC-1	chr14:21668240-21672514	NONHSAT035665

No data

Variant related genes	Relation type
ENSG00000165795	Chromatin interaction
ENSG00000258441	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10483251	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61979497	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription 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	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv901477	chr14:21625262-21750308	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv901478	chr14:21626497-21750308	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv974434	chr14:21634973-21678548	Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv974312	chr14:21652582-21678548	Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv1037590	chr14:21659344-21708852	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12184962	TSSK4	cis	cerebellum	SCAN
rs12184962	DHRS2	cis	parietal	SCAN
rs12184962	SLC22A17	cis	parietal	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21660600-21673200	Weak transcription	Psoas Muscle	Psoas
2	chr14:21660600-21686200	Weak transcription	Right Atrium	heart
3	chr14:21660800-21672800	Weak transcription	Liver	Liver
4	chr14:21660800-21675200	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:21660800-21678200	Weak transcription	Right Ventricle	heart
6	chr14:21660800-21679400	Weak transcription	Gastric	stomach
7	chr14:21661000-21671400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:21661000-21671600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:21661000-21672200	Weak transcription	Primary B cells from cord blood	blood
10	chr14:21661000-21672200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:21661000-21672400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:21661000-21672400	Weak transcription	Lung	lung
13	chr14:21661000-21672800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:21661000-21672800	Weak transcription	Spleen	Spleen
15	chr14:21661000-21673000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:21661000-21673600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:21661000-21674800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:21661000-21674800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:21661000-21679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:21661200-21672400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:21661400-21672800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:21661600-21671800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:21661600-21672400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:21661800-21671600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:21663800-21672200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:21664000-21671600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:21664000-21672400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:21664000-21673000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:21664000-21673000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:21664000-21675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:21664000-21675400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr14:21664800-21677600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr14:21665400-21677000	Weak transcription	Ovary	ovary
34	chr14:21665800-21673000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:21666000-21672800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:21666000-21675400	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:21666200-21671600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:21666200-21672800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:21666400-21671600	Weak transcription	HUVEC	blood vessel
40	chr14:21666400-21671800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:21666400-21672600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:21666600-21671800	Weak transcription	Thymus	Thymus
43	chr14:21667200-21672000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:21667600-21672800	Weak transcription	Fetal Lung	lung
45	chr14:21667800-21671800	Weak transcription	Fetal Stomach	stomach
46	chr14:21667800-21672400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:21667800-21675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:21668200-21672200	Weak transcription	HMEC	breast
49	chr14:21668200-21673600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:21668600-21672800	Weak transcription	Rectal Mucosa Donor 29	rectum

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