Variant report

Variant	rs198572
Chromosome Location	chr13:49021045-49021046
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	POLR2A	chr13:49020646-49021131	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr13:49020474-49021087	HUVEC	blood vessel:	n/a	n/a
3	FOSL2	chr13:49020573-49021120	SK-N-SH	brain:	n/a	n/a
4	JUND	chr13:49020428-49021341	SK-N-SH	brain:	n/a	chr13:49020790-49020801
5	MAX	chr13:49020653-49021137	NB4	blood:	n/a	n/a
6	FOS	chr13:49020555-49021104	HUVEC	blood vessel:	n/a	chr13:49020790-49020801
7	MYC	chr13:49020636-49021158	NB4	blood:	n/a	n/a
8	GATA2	chr13:49020645-49021177	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
LPAR6	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11840676	0.92[EUR][1000 genomes]
rs17071960	0.82[AMR][1000 genomes]
rs171989	1.00[EUR][1000 genomes]
rs171991	0.88[AFR][1000 genomes]
rs174854	0.82[AMR][1000 genomes]
rs174858	0.82[AFR][1000 genomes]
rs185587	0.92[EUR][1000 genomes]
rs198559	1.00[EUR][1000 genomes]
rs198560	0.84[AFR][1000 genomes]
rs198565	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198566	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198573	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198580	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs198583	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198587	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198589	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs198600	1.00[EUR][1000 genomes]
rs198601	1.00[EUR][1000 genomes]
rs198613	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198616	1.00[EUR][1000 genomes]
rs198617	1.00[EUR][1000 genomes]
rs198618	1.00[EUR][1000 genomes]
rs198626	0.84[EUR][1000 genomes]
rs198628	1.00[EUR][1000 genomes]
rs198632	1.00[EUR][1000 genomes]
rs198636	1.00[EUR][1000 genomes]
rs2245534	0.92[EUR][1000 genomes]
rs2265777	0.92[EUR][1000 genomes]
rs2406932	0.92[EUR][1000 genomes]
rs2515668	0.92[EUR][1000 genomes]
rs2804082	1.00[EUR][1000 genomes]
rs2804084	1.00[EUR][1000 genomes]
rs2804085	1.00[EUR][1000 genomes]
rs2804086	1.00[EUR][1000 genomes]
rs2804087	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804088	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804089	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804091	0.92[EUR][1000 genomes]
rs2804092	0.92[EUR][1000 genomes]
rs2854352	0.92[EUR][1000 genomes]
rs2854356	0.92[EUR][1000 genomes]
rs2854363	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854364	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854365	0.92[EUR][1000 genomes]
rs2984828	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3020646	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs411661	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs411862	1.00[EUR][1000 genomes]
rs4151590	0.92[EUR][1000 genomes]
rs416156	1.00[EUR][1000 genomes]
rs428431	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs443211	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs449151	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4587857	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4625624	0.92[EUR][1000 genomes]
rs547747	1.00[EUR][1000 genomes]
rs61507973	0.92[EUR][1000 genomes]
rs7318012	0.92[EUR][1000 genomes]
rs7990103	1.00[EUR][1000 genomes]
rs8001351	0.92[EUR][1000 genomes]
rs9285166	0.92[EUR][1000 genomes]
rs9316371	0.92[EUR][1000 genomes]
rs9332053	0.82[EUR][1000 genomes]
rs9332066	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9332248	0.92[EUR][1000 genomes]
rs9332281	0.92[EUR][1000 genomes]
rs9562817	1.00[EUR][1000 genomes]
rs9591153	0.92[EUR][1000 genomes]
rs9591154	0.92[EUR][1000 genomes]
rs9591155	0.92[EUR][1000 genomes]
rs9591163	1.00[EUR][1000 genomes]
rs9595894	1.00[EUR][1000 genomes]
rs9595909	1.00[EUR][1000 genomes]
rs9595910	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48990800-49030800	Weak transcription	Ovary	ovary
2	chr13:48991400-49030600	Weak transcription	Spleen	Spleen
3	chr13:48999000-49024400	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:49001400-49022400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:49001400-49024600	Weak transcription	Fetal Intestine Small	intestine
6	chr13:49003600-49023200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr13:49006800-49030400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr13:49007000-49027600	Weak transcription	Primary T cells from cord blood	blood
9	chr13:49008000-49028600	Weak transcription	HepG2	liver
10	chr13:49008800-49030800	Weak transcription	Placenta	Placenta
11	chr13:49009000-49030600	Weak transcription	Gastric	stomach
12	chr13:49009000-49030600	Weak transcription	Lung	lung
13	chr13:49011200-49028800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:49011400-49022800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr13:49011800-49023600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr13:49012000-49022400	Weak transcription	Brain Anterior Caudate	brain
17	chr13:49012000-49022800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr13:49012000-49023400	Weak transcription	Small Intestine	intestine
19	chr13:49012000-49027400	Weak transcription	Left Ventricle	heart
20	chr13:49012000-49028800	Weak transcription	Pancreas	Pancrea
21	chr13:49012200-49022400	Weak transcription	Adipose Nuclei	Adipose
22	chr13:49012400-49024400	Weak transcription	Fetal Heart	heart
23	chr13:49015200-49027400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:49017400-49062200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:49017800-49021200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr13:49017800-49021200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr13:49018000-49024000	Strong transcription	Dnd41	blood
28	chr13:49018000-49062400	Weak transcription	Fetal Brain Male	brain
29	chr13:49018200-49022800	Weak transcription	Fetal Lung	lung
30	chr13:49018400-49022400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr13:49018400-49022400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:49018400-49025200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr13:49018600-49023800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr13:49019000-49030600	Weak transcription	Fetal Stomach	stomach
35	chr13:49019200-49022600	Weak transcription	GM12878-XiMat	blood
36	chr13:49019600-49021200	Enhancers	HMEC	breast
37	chr13:49019800-49022200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr13:49019800-49023600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:49019800-49024000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr13:49020000-49022400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr13:49020000-49022400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr13:49020000-49024000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr13:49020000-49028600	Weak transcription	Thymus	Thymus
44	chr13:49020200-49021200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr13:49020200-49022800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr13:49020200-49023200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr13:49020400-49021200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:49020400-49021200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr13:49020400-49021200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:49020400-49021200	Enhancers	HSMMtube	muscle

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