Variant report

Variant	rs4777534
Chromosome Location	chr15:73050222-73050223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:73050178-73050977	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:73049938-73050705	GM12892	blood:	n/a	n/a
3	NFIC	chr15:73049786-73050254	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr15:73050029-73050511	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73049186..73051770-chr15:73072949..73076067,3	K562	blood:

Variant related genes	Relation type
ADPGK	TF binding region
ENSG00000159322	Chromatin interaction
ENSG00000260898	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10459647	0.96[ASN][1000 genomes]
rs11072385	0.90[ASN][1000 genomes]
rs11631214	0.95[ASN][1000 genomes]
rs11631352	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[ASN][1000 genomes]
rs11637168	0.84[ASN][1000 genomes]
rs12900863	0.86[ASN][1000 genomes]
rs12911743	0.81[ASN][1000 genomes]
rs2162269	0.90[ASN][1000 genomes]
rs2277598	0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[ASN][1000 genomes]
rs2304597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs28582982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34117151	0.86[ASN][1000 genomes]
rs3850986	0.90[ASN][1000 genomes]
rs4776613	0.93[ASN][1000 genomes]
rs4776614	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs4777532	0.98[ASN][1000 genomes]
rs4777536	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777542	0.93[ASN][1000 genomes]
rs4777546	0.81[ASN][1000 genomes]
rs62017600	0.98[ASN][1000 genomes]
rs7164727	0.86[ASN][1000 genomes]
rs7166595	0.86[ASN][1000 genomes]
rs7171728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176223	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[ASN][1000 genomes]
rs7176235	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs7178130	0.84[GIH][hapmap];0.92[JPT][hapmap]
rs8024986	0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[ASN][1000 genomes]
rs8025333	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8027181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8030477	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs8033073	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8033580	0.92[JPT][hapmap]
rs8038247	0.86[ASN][1000 genomes]
rs890354	0.84[ASN][1000 genomes]
rs9460	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
2	chr15:73030600-73058400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:73035800-73050600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:73041800-73071000	Strong transcription	Liver	Liver
5	chr15:73042200-73053800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:73042200-73055400	Strong transcription	Fetal Muscle Leg	muscle
7	chr15:73042200-73056200	Strong transcription	Thymus	Thymus
8	chr15:73042200-73058600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:73042200-73058600	Strong transcription	A549	lung
10	chr15:73043200-73050400	Strong transcription	Colonic Mucosa	Colon
11	chr15:73043200-73053400	Strong transcription	GM12878-XiMat	blood
12	chr15:73043200-73053800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr15:73043400-73051000	Strong transcription	Esophagus	oesophagus
14	chr15:73043400-73051200	Strong transcription	Pancreas	Pancrea
15	chr15:73043400-73053600	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr15:73043400-73055200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:73043400-73055800	Strong transcription	Fetal Stomach	stomach
18	chr15:73043400-73056200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr15:73043400-73056600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:73043400-73056600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr15:73043400-73056800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr15:73043400-73058800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:73043400-73058800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:73043400-73059000	Strong transcription	Fetal Intestine Small	intestine
25	chr15:73043400-73059000	Strong transcription	Left Ventricle	heart
26	chr15:73043400-73059200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:73043400-73059200	Strong transcription	Fetal Intestine Large	intestine
28	chr15:73043600-73050600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:73043800-73051200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:73043800-73051200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:73043800-73053600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr15:73043800-73057000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:73043800-73057200	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
35	chr15:73044000-73051200	Strong transcription	Fetal Brain Female	brain
36	chr15:73044000-73053400	Strong transcription	Fetal Lung	lung
37	chr15:73044000-73054000	Strong transcription	HepG2	liver
38	chr15:73044000-73057400	Strong transcription	Dnd41	blood
39	chr15:73044000-73058600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:73044200-73051200	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr15:73044200-73059200	Strong transcription	Primary T cells from cord blood	blood
42	chr15:73044200-73067600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr15:73044400-73056400	Weak transcription	Fetal Heart	heart
44	chr15:73044400-73056400	Strong transcription	Hela-S3	cervix
45	chr15:73044600-73056200	Strong transcription	Ovary	ovary
46	chr15:73045000-73053000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:73045000-73053400	Strong transcription	Primary B cells from cord blood	blood
48	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:73045200-73054000	Strong transcription	Lung	lung
50	chr15:73045200-73058800	Strong transcription	Primary B cells from peripheral blood	blood

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