Variant report

Variant	rs4982440
Chromosome Location	chr14:21776637-21776638
allele	A/G
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21768791..21773432-chr14:21775011..21777048,5	MCF-7	breast:
2	chr14:21731798..21735401-chr14:21775005..21778167,4	MCF-7	breast:
3	chr14:21735883..21738830-chr14:21774715..21778854,7	MCF-7	breast:
4	chr14:21775706..21777351-chr14:21851149..21853404,2	MCF-7	breast:
5	chr14:21775315..21780554-chr14:21785592..21789539,5	K562	blood:
6	chr14:21736279..21738855-chr14:21774365..21778910,7	K562	blood:
7	chr14:21774765..21778578-chr14:21848688..21854259,7	MCF-7	breast:
8	chr14:21733893..21736248-chr14:21775936..21778469,3	K562	blood:
9	chr14:21734939..21739093-chr14:21774613..21780791,11	K562	blood:
10	chr14:21775799..21777853-chr14:21792862..21795336,2	MCF-7	breast:
11	chr14:21698305..21701103-chr14:21775340..21777251,2	MCF-7	breast:
12	chr14:21776403..21778650-chr14:21847769..21849405,2	K562	blood:
13	chr14:21730115..21732637-chr14:21776169..21779224,3	MCF-7	breast:
14	chr14:21730591..21733022-chr14:21775297..21777656,3	K562	blood:
15	chr14:21775315..21780588-chr14:21785592..21789606,7	K562	blood:
16	chr14:21775709..21778456-chr14:21815008..21816691,2	MCF-7	breast:
17	chr14:21774301..21777973-chr14:21828099..21831298,3	K562	blood:
18	chr14:21673277..21675794-chr14:21775419..21778094,2	MCF-7	breast:
19	chr14:21725317..21729371-chr14:21774547..21778706,6	K562	blood:
20	chr14:21735133..21741012-chr14:21774869..21780347,13	MCF-7	breast:
21	chr14:21715916..21717624-chr14:21774839..21777114,2	MCF-7	breast:
22	chr14:21770316..21772335-chr14:21774235..21777152,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000092199	Chromatin interaction
ENSG00000258441	Chromatin interaction
ENSG00000092201	Chromatin interaction
ENSG00000092200	Chromatin interaction
ENSG00000260830	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10131759	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10138029	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10142653	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10152068	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620670	0.98[ASN][1000 genomes]
rs11620900	0.96[ASN][1000 genomes]
rs12433693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586823	0.94[ASN][1000 genomes]
rs12883358	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12888713	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17197079	0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17792617	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1957413	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957414	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2874061	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28757752	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3748357	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.96[ASN][1000 genomes]
rs3748358	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4981369	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4981370	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981371	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571751	0.83[CEU][hapmap];0.85[AMR][1000 genomes]
rs7147638	0.95[ASN][1000 genomes]
rs7147689	0.96[ASN][1000 genomes]
rs7149546	0.95[ASN][1000 genomes]
rs7153570	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154575	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155459	0.82[AMR][1000 genomes]
rs762069	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008315	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8009616	0.96[ASN][1000 genomes]
rs8010980	0.96[ASN][1000 genomes]
rs8018562	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8019326	0.84[AMR][1000 genomes]
rs8021536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
13	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer 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	37 gene(s)	inside rSNPs	diseases
16	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
17	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	esv3339520	chr14:21741166-21806074	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv1054778	chr14:21762940-21802579	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4982440	RNASE6	cis	cerebellum	SCAN
rs4982440	TGM1	cis	cerebellum	SCAN
rs4982440	SNORD8	cis	cerebellum	SCAN
rs4982440	OR4K14	cis	cerebellum	SCAN
rs4982440	LTB4R	cis	cerebellum	SCAN
rs4982440	MMP14	cis	parietal	SCAN
rs4982440	MFN1	trans	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21775800-21776800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr14:21775800-21776800	Flanking Active TSS	GM12878-XiMat	blood
3	chr14:21776000-21776800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:21776000-21777000	Flanking Active TSS	Fetal Heart	heart
5	chr14:21776000-21777600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr14:21776000-21777600	Flanking Active TSS	HepG2	liver
7	chr14:21776200-21776800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:21776200-21776800	Flanking Active TSS	Liver	Liver
9	chr14:21776200-21776800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr14:21776200-21776800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr14:21776200-21776800	Flanking Active TSS	K562	blood
12	chr14:21776200-21777000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:21776200-21777000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr14:21776200-21777000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr14:21776200-21777600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:21776200-21777600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr14:21776200-21777600	Active TSS	Rectal Smooth Muscle	rectum
18	chr14:21776200-21777600	Enhancers	Small Intestine	intestine
19	chr14:21776400-21776800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr14:21776400-21776800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr14:21776400-21776800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:21776400-21776800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr14:21776400-21777000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr14:21776400-21777000	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr14:21776400-21777000	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr14:21776400-21777000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr14:21776400-21777000	Flanking Active TSS	HMEC	breast
28	chr14:21776400-21777000	Flanking Active TSS	NHEK	skin
29	chr14:21776400-21777200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:21776400-21777400	Active TSS	Brain Substantia Nigra	brain
31	chr14:21776400-21777400	Active TSS	Fetal Brain Male	brain
32	chr14:21776400-21777400	Active TSS	Right Atrium	heart
33	chr14:21776400-21777400	Active TSS	Right Ventricle	heart
34	chr14:21776400-21777600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr14:21776400-21777600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:21776400-21777600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr14:21776400-21777600	Active TSS	Brain Cingulate Gyrus	brain
38	chr14:21776400-21777600	Active TSS	Fetal Brain Female	brain
39	chr14:21776400-21777800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:21776400-21777800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:21776600-21776800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr14:21776600-21776800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:21776600-21776800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr14:21776600-21776800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr14:21776600-21776800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr14:21776600-21776800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr14:21776600-21776800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:21776600-21776800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:21776600-21776800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:21776600-21776800	Flanking Active TSS	Brain Germinal Matrix	brain

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