Variant report

Variant	rs2044436
Chromosome Location	chr15:59437204-59437205
allele	A/G
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	SMC3	chr15:59436768-59437218	SK-N-SH	brain:	n/a	chr15:59436999-59437013
2	RAD21	chr15:59436705-59437223	SK-N-SH	brain:	n/a	chr15:59436998-59437017
3	POLR2A	chr15:59437195-59437399	HepG2	liver:	n/a	n/a
4	CTCF	chr15:59436854-59437233	K562	blood:	n/a	chr15:59437001-59437008 chr15:59436997-59437015 chr15:59436999-59437020 chr15:59436998-59437014
5	RAD21	chr15:59436793-59437215	A549	lung:	n/a	chr15:59436998-59437017

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59435256..59437610-chr15:59439195..59441427,3	K562	blood:

Variant related genes	Relation type
ENSG00000268327	TF binding region
ENSG00000268327	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11071408	0.80[ASN][1000 genomes]
rs12438949	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12441365	0.83[ASN][1000 genomes]
rs12443442	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941030	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16941040	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941042	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941046	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941051	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941055	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941063	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941069	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16953412	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17236439	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2414620	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28365901	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28376133	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383491	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383497	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383502	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383504	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383512	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383513	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383514	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383519	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383520	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383523	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383531	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383536	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28383542	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383545	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383546	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383549	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383551	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383552	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383553	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383561	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28399204	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28406885	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28491732	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28615244	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28739024	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2899643	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3751538	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3764193	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3764194	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3803449	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3809531	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4523870	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56187627	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56294483	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56891889	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57057009	0.83[EUR][1000 genomes]
rs57750394	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57803886	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58014933	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58207484	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58321899	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58827061	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59037515	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59398329	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59921711	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60533405	0.83[EUR][1000 genomes]
rs60628647	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60785075	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61369543	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61690344	0.83[EUR][1000 genomes]
rs7165934	0.85[EUR][1000 genomes]
rs73418826	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73418888	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73418890	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73418896	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74017339	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74017345	0.83[EUR][1000 genomes]
rs74017356	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74017357	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8035850	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59397800-59450000	Weak transcription	Small Intestine	intestine
2	chr15:59398000-59462000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:59401200-59439800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:59409600-59438600	Weak transcription	Primary T cells from cord blood	blood
5	chr15:59421000-59437600	Strong transcription	Dnd41	blood
6	chr15:59421400-59453400	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:59422200-59438800	Strong transcription	Thymus	Thymus
8	chr15:59422200-59451200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:59422600-59439600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:59422600-59440200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:59422600-59440600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr15:59422600-59447600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr15:59422600-59451000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr15:59423000-59440000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:59423000-59440200	Strong transcription	Fetal Stomach	stomach
16	chr15:59423400-59439200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:59424400-59461400	Strong transcription	Hela-S3	cervix
18	chr15:59425200-59455200	Strong transcription	Fetal Intestine Small	intestine
19	chr15:59425400-59455200	Strong transcription	Fetal Intestine Large	intestine
20	chr15:59425800-59459600	Strong transcription	Liver	Liver
21	chr15:59426200-59451000	Weak transcription	Psoas Muscle	Psoas
22	chr15:59427000-59449200	Weak transcription	Brain Angular Gyrus	brain
23	chr15:59428000-59443200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr15:59428000-59444800	Weak transcription	Fetal Heart	heart
25	chr15:59428200-59451600	Weak transcription	Fetal Lung	lung
26	chr15:59429600-59439800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:59430000-59442200	Weak transcription	Right Ventricle	heart
28	chr15:59430400-59442600	Weak transcription	Ovary	ovary
29	chr15:59430600-59442400	Weak transcription	Brain Anterior Caudate	brain
30	chr15:59430800-59442600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:59431200-59439000	Weak transcription	NH-A	brain
32	chr15:59431800-59467200	Weak transcription	Fetal Brain Female	brain
33	chr15:59432000-59465600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:59432600-59457400	Strong transcription	Placenta	Placenta
35	chr15:59432800-59442000	Weak transcription	K562	blood
36	chr15:59432800-59444600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:59433200-59438000	Weak transcription	HUVEC	blood vessel
38	chr15:59433200-59440600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:59433200-59442400	Weak transcription	Pancreas	Pancrea
40	chr15:59433200-59442600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:59433400-59439400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:59433400-59439800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:59433400-59440000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:59433400-59444800	Weak transcription	Stomach Mucosa	stomach
45	chr15:59433400-59456000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:59433600-59438000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:59433600-59439200	Weak transcription	HMEC	breast
48	chr15:59433600-59439400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:59433600-59439400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:59433600-59440000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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