Variant report

Variant	rs4924677
Chromosome Location	chr15:42729508-42729509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42727878..42730345-chr15:42731717..42734445,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12101559	0.82[AMR][1000 genomes]
rs12438240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12438369	0.81[ASW][hapmap]
rs12438509	0.81[ASW][hapmap];0.85[CHB][hapmap]
rs16973008	0.81[ASW][hapmap];0.85[CHB][hapmap]
rs16973045	0.85[CHB][hapmap]
rs16973060	0.85[CHB][hapmap]
rs16973261	0.83[AMR][1000 genomes]
rs2412688	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.83[EUR][1000 genomes]
rs2412709	1.00[ASW][hapmap];1.00[CHD][hapmap];0.85[LWK][hapmap];0.95[YRI][hapmap]
rs2617238	1.00[CEU][hapmap]
rs28364393	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs28745877	1.00[EUR][1000 genomes]
rs3742996	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743005	0.81[ASW][hapmap];0.85[CHB][hapmap]
rs3743007	0.85[CHB][hapmap]
rs3743008	0.85[CHB][hapmap]
rs3825785	0.81[ASW][hapmap];0.85[CHB][hapmap]
rs4506867	0.85[CHB][hapmap];0.90[YRI][hapmap]
rs4923945	0.82[CHB][hapmap]
rs4923947	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4924672	0.81[ASW][hapmap];0.85[CHB][hapmap]
rs4924673	0.85[CHB][hapmap]
rs4924675	0.81[ASW][hapmap];0.81[CHD][hapmap]
rs4924679	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924680	0.92[AMR][1000 genomes]
rs4924682	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55671734	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57734638	0.96[AMR][1000 genomes]
rs57976413	0.83[EUR][1000 genomes]
rs58567518	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091866	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59206762	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59414917	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59908459	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60328984	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60634548	0.83[EUR][1000 genomes]
rs61069354	0.83[EUR][1000 genomes]
rs7169767	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171201	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7180279	0.81[ASW][hapmap];0.85[CHB][hapmap]
rs7180315	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181688	0.83[AMR][1000 genomes]
rs73402745	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73403365	0.83[EUR][1000 genomes]
rs73409577	0.83[EUR][1000 genomes]
rs8026817	0.91[AMR][1000 genomes]
rs8036255	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs934876	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
6	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42694600-42750600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:42698600-42738400	Strong transcription	Fetal Muscle Leg	muscle
3	chr15:42699200-42741600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr15:42700000-42732400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:42700800-42732000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:42700800-42747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:42701000-42738800	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:42701200-42766600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr15:42701400-42732600	Strong transcription	Adipose Nuclei	Adipose
10	chr15:42701600-42744200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr15:42701800-42732400	Strong transcription	Fetal Intestine Large	intestine
12	chr15:42702200-42750200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr15:42702400-42732600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:42702400-42744200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr15:42702400-42744200	Strong transcription	Liver	Liver
16	chr15:42702600-42732400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:42702600-42738800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:42702600-42744400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:42702800-42732000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:42702800-42744400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr15:42703000-42732200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:42703000-42732400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:42703200-42732600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr15:42704000-42744400	Strong transcription	Fetal Lung	lung
25	chr15:42704000-42746800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:42704200-42731000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:42704600-42744200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:42705800-42749200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr15:42706400-42732400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:42706400-42732400	Strong transcription	Placenta	Placenta
31	chr15:42706400-42732600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr15:42706400-42734600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:42706400-42744200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr15:42706600-42730000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:42706600-42732200	Strong transcription	Lung	lung
36	chr15:42707000-42730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:42707000-42739400	Strong transcription	Left Ventricle	heart
38	chr15:42707800-42732400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr15:42708200-42732000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr15:42709800-42747000	Weak transcription	Stomach Mucosa	stomach
41	chr15:42710200-42740200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr15:42711200-42732000	Strong transcription	Right Ventricle	heart
43	chr15:42711600-42730800	Strong transcription	Fetal Brain Female	brain
44	chr15:42711800-42729800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:42711800-42732400	Strong transcription	Primary T cells from cord blood	blood
46	chr15:42711800-42749200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:42712200-42732200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr15:42712200-42732600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr15:42713000-42731800	Strong transcription	Fetal Stomach	stomach
50	chr15:42718000-42730600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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