Variant report

Variant	rs4942734
Chromosome Location	chr13:48567844-48567845
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	chr13:48567594..48569660-chr13:48610614..48612123,2	K562	blood:
2	chr13:48562284..48565237-chr13:48566749..48568983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136159	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1104351	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840968	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841315	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12869161	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12874522	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326133	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326137	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327656	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1410116	0.94[EUR][1000 genomes]
rs1752129	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886977	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927214	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998988	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1998989	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2025864	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094190	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094193	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094195	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104481	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148939	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2148940	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182373	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182785	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2406694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406796	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406798	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765077	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862747	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3990876	0.80[AMR][1000 genomes]
rs4427704	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4941618	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941620	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941624	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942720	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942721	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942723	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4942724	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942740	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942746	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61972210	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61972223	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61972227	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973264	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973265	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973266	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973307	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973308	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61974562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61974563	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61974564	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61974579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561414	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561416	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561421	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561425	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561438	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7317685	0.87[AMR][1000 genomes]
rs7323702	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7323821	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7324368	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7325175	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326381	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326418	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329137	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329266	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332363	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332994	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7334801	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7335797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336170	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7985469	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990099	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7991892	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996051	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996581	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999270	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8001032	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8001509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002847	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs840428	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840429	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840437	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840439	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316340	1.00[ASN][1000 genomes]
rs9316350	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316351	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943066	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943067	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526419	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526441	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9526448	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526454	0.87[AMR][1000 genomes]
rs9526455	0.87[AMR][1000 genomes]
rs9534884	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534956	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534959	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9534966	0.87[AMR][1000 genomes]
rs9562792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567988	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4942734	SUCLA2	cis	multi-tissue	Pritchard
rs4942734	MED4	Cis_1M	lymphoblastoid	RTeQTL
rs4942734	MED4	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48514400-48574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr13:48534200-48573200	Weak transcription	Brain Angular Gyrus	brain
3	chr13:48534400-48574400	Weak transcription	Small Intestine	intestine
4	chr13:48537200-48574200	Weak transcription	Colonic Mucosa	Colon
5	chr13:48537400-48574000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:48537400-48574400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:48538400-48574000	Weak transcription	Hela-S3	cervix
8	chr13:48539600-48571200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr13:48540000-48574200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:48543000-48574400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr13:48546600-48574400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:48546600-48574800	Weak transcription	Spleen	Spleen
13	chr13:48546800-48571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:48548000-48574200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr13:48548800-48574400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:48550800-48574200	Weak transcription	Ovary	ovary
17	chr13:48551000-48573800	Weak transcription	Fetal Heart	heart
18	chr13:48551000-48574400	Weak transcription	HSMMtube	muscle
19	chr13:48552000-48574000	Weak transcription	A549	lung
20	chr13:48557800-48571800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr13:48557800-48572400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:48558000-48570800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:48558000-48573200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:48558600-48571800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr13:48558800-48569000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:48559000-48571000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr13:48559200-48568000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:48559200-48569400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:48559200-48570000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:48559600-48571200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr13:48559800-48571600	Weak transcription	Brain Substantia Nigra	brain
32	chr13:48559800-48574200	Weak transcription	Brain Anterior Caudate	brain
33	chr13:48560000-48574000	Weak transcription	Fetal Kidney	kidney
34	chr13:48560800-48573400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:48560800-48574600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr13:48561000-48572600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr13:48561200-48573200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr13:48561200-48574200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:48561400-48568800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:48561400-48573000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr13:48561600-48574200	Weak transcription	Osteobl	bone
42	chr13:48562600-48573000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:48563400-48570800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr13:48563600-48569200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr13:48563800-48574200	Weak transcription	Fetal Brain Male	brain
46	chr13:48564000-48569400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr13:48564200-48568000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:48564200-48568000	Strong transcription	Fetal Muscle Leg	muscle
49	chr13:48564200-48568600	Strong transcription	Fetal Stomach	stomach
50	chr13:48564200-48569600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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