Variant report

Variant	rs2278613
Chromosome Location	chr15:57179300-57179301
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:1)
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	chr15:57176057..57187872-chr15:57206946..57217524,36	K562	blood:
2	chr15:57178056..57181492-chr15:57182204..57185235,4	MCF-7	breast:
3	chr15:57177826..57180634-chr15:57614648..57617463,2	K562	blood:
4	chr15:57178804..57180987-chr15:57202358..57204710,2	MCF-7	breast:
5	chr15:57179296..57179805-chr9:134270293..134270831,2	Hela-S3	cervix:
6	chr15:57178290..57182491-chr15:57208958..57213003,14	K562	blood:
7	chr15:57179137..57180957-chr15:57186379..57188550,2	MCF-7	breast:
8	chr15:57178055..57182351-chr15:57208260..57213543,21	MCF-7	breast:
9	chr12:57039323..57040135-chr15:57179119..57179661,2	HCT-116	colon:
10	chr15:57179205..57179847-chr19:9929100..9929741,2	NB4	blood:
11	chr15:57178054..57181022-chr15:57209016..57212878,5	MCF-7	breast:
12	chr15:57179277..57180087-chr2:237076534..237077101,2	Hela-S3	cervix:
13	chr15:56536601..56538445-chr15:57177718..57180315,2	K562	blood:
14	chr15:57178197..57180890-chr6:86114463..86117112,2	MCF-7	breast:
15	chr15:57173403..57176748-chr15:57177855..57180719,3	MCF-7	breast:
16	chr15:57178897..57180716-chr15:57201391..57203977,3	K562	blood:
17	chr15:57179055..57180247-chr15:57209891..57211707,10	Hela-S3	cervix:
18	chr15:57023926..57025513-chr15:57178934..57180893,2	K562	blood:
19	chr15:56773647..56776313-chr15:57177229..57179430,2	K562	blood:
20	chr15:57175109..57176620-chr15:57178319..57180528,2	MCF-7	breast:
21	chr15:57179250..57180024-chr15:57210182..57211483,8	MCF-7	breast:
22	chr15:57179121..57179818-chr16:90088822..90089542,2	HCT-116	colon:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MNS1-3	chr15:57178368-57180122	ENSG00000248500

No data

Variant related genes	Relation type
ENSG00000110955	Chromatin interaction
ENSG00000137871	Chromatin interaction
ENSG00000168505	Chromatin interaction
ENSG00000140262	Chromatin interaction
ENSG00000127452	Chromatin interaction
ENSG00000141013	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10851612	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115019	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1158246	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855646	0.80[EUR][1000 genomes]
rs11856411	0.87[CHB][hapmap]
rs1430820	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs1430822	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs1441235	0.87[EUR][1000 genomes]
rs1441236	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1612205	0.81[EUR][1000 genomes]
rs1629339	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1647392	0.87[CEU][hapmap]
rs1652744	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1652746	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1652747	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1652748	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1657922	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1657927	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1657930	0.82[EUR][1000 genomes]
rs1657934	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs1657935	0.83[EUR][1000 genomes]
rs1657936	0.83[EUR][1000 genomes]
rs1657937	0.83[EUR][1000 genomes]
rs1657938	0.83[EUR][1000 genomes]
rs1657939	0.81[EUR][1000 genomes]
rs1660948	0.83[EUR][1000 genomes]
rs1660951	0.83[EUR][1000 genomes]
rs1660958	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1660963	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1660964	0.85[ASN][1000 genomes]
rs16977153	0.82[CHB][hapmap]
rs17415731	0.91[CHB][hapmap]
rs2414487	0.80[EUR][1000 genomes]
rs28371400	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28874022	0.80[ASN][1000 genomes]
rs4774245	0.82[CHB][hapmap]
rs4774895	0.80[EUR][1000 genomes]
rs6493886	0.82[CEU][hapmap]
rs6493893	0.87[CEU][hapmap]
rs6493900	0.87[CHB][hapmap]
rs7162194	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs7163267	0.87[CHB][hapmap]
rs7164655	0.87[CHB][hapmap]
rs7171073	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs7175191	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7176873	0.82[JPT][hapmap]
rs7178833	0.87[CHB][hapmap]
rs7359253	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs8031640	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs8032615	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs8034066	0.87[CHB][hapmap]
rs8035485	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs8039899	0.87[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57178200-57180200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr15:57178600-57179400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr15:57178600-57179400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr15:57178600-57179800	Active TSS	HSMM	muscle
5	chr15:57178600-57180000	Active TSS	A549	lung
6	chr15:57178600-57180000	Active TSS	Hela-S3	cervix
7	chr15:57178600-57180200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr15:57178600-57180400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr15:57178600-57180400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr15:57178600-57180400	Active TSS	Thymus	Thymus
11	chr15:57178600-57180600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:57178600-57180600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:57178600-57181200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:57178800-57179400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr15:57178800-57179400	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr15:57178800-57179400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr15:57178800-57179400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr15:57178800-57179400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr15:57178800-57179400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:57178800-57179400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr15:57178800-57179400	Flanking Active TSS	Dnd41	blood
22	chr15:57178800-57179400	Flanking Active TSS	HMEC	breast
23	chr15:57178800-57179600	Active TSS	Colonic Mucosa	Colon
24	chr15:57178800-57179800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:57178800-57179800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:57178800-57179800	Active TSS	Stomach Mucosa	stomach
27	chr15:57178800-57179800	Active TSS	HSMMtube	muscle
28	chr15:57178800-57180000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:57178800-57180000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr15:57178800-57180000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:57178800-57180000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:57178800-57180000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:57178800-57180000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:57178800-57180000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:57178800-57180200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:57178800-57180200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr15:57178800-57180200	Active TSS	Fetal Muscle Trunk	muscle
38	chr15:57178800-57180400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr15:57178800-57180400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:57178800-57180600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:57179000-57179400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr15:57179000-57179400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:57179000-57179400	Flanking Active TSS	Fetal Thymus	thymus
44	chr15:57179000-57179400	Flanking Active TSS	Spleen	Spleen
45	chr15:57179000-57179400	Flanking Active TSS	HUVEC	blood vessel
46	chr15:57179000-57179600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:57179000-57179800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:57179000-57179800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:57179000-57179800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:57179000-57179800	Active TSS	Liver	Liver

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