Variant report

Variant	rs73740609
Chromosome Location	chr6:28387294-28387295
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28380471..28382537-chr6:28386259..28388038,2	K562	blood:
2	chr6:28385891..28388590-chr6:28390011..28392158,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1015690	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10484540	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1555046	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1555047	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1556957	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16894121	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17313059	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17313276	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17314224	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17314865	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17314991	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17315340	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17315648	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17315739	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17316033	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17392982	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17393342	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17393506	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17393786	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17393918	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17393939	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2027362	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2072318	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2072319	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2232434	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2232438	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3734562	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56001748	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56241479	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56787378	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57126418	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57204212	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57366176	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs59732975	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60184496	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60660967	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6915122	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73740620	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73740622	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73740623	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73742547	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73742550	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73742551	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73742555	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73742558	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs758396	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7774788	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9468378	0.81[AMR][1000 genomes]
rs9717944	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[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	esv1836974	chr6:28376981-28398748	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73740609	ZNF323	cis	brain	BrainEAC
rs73740609	ZSCAN12	cis	brain	BrainEAC

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28371200-28410400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:28377600-28390200	Weak transcription	Fetal Lung	lung
3	chr6:28379400-28389200	Weak transcription	HSMM	muscle
4	chr6:28380800-28390600	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:28381400-28390000	Weak transcription	Fetal Brain Female	brain
6	chr6:28382800-28387600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:28383400-28390600	Weak transcription	Fetal Stomach	stomach
8	chr6:28383600-28392600	Weak transcription	Brain Germinal Matrix	brain
9	chr6:28383800-28393000	Weak transcription	Fetal Intestine Small	intestine
10	chr6:28384000-28387600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:28384600-28387800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:28384600-28390200	Weak transcription	NH-A	brain
13	chr6:28384600-28410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:28384800-28388000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:28384800-28388400	Weak transcription	Small Intestine	intestine
16	chr6:28384800-28390800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:28385000-28387400	Weak transcription	NHDF-Ad	bronchial
18	chr6:28385000-28390600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:28385200-28390600	Weak transcription	Placenta	Placenta
20	chr6:28385400-28391000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:28385400-28391200	Weak transcription	HSMMtube	muscle
22	chr6:28385400-28402000	Weak transcription	Fetal Kidney	kidney
23	chr6:28385400-28402200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:28385600-28390800	Weak transcription	Aorta	Aorta
25	chr6:28385600-28390800	Weak transcription	Ovary	ovary
26	chr6:28385600-28410800	Weak transcription	Lung	lung
27	chr6:28385800-28387600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:28385800-28390800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:28385800-28391800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:28386000-28387600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:28386000-28402200	Weak transcription	Osteobl	bone
32	chr6:28386000-28410400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:28386200-28390000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:28386200-28390600	Weak transcription	Right Ventricle	heart
35	chr6:28386200-28391000	Weak transcription	Psoas Muscle	Psoas
36	chr6:28386200-28395800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:28386600-28387800	Strong transcription	Fetal Muscle Leg	muscle
38	chr6:28386600-28391000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:28386600-28392200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:28386600-28392800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:28386600-28397800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:28386800-28387800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr6:28386800-28392000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:28386800-28393600	Weak transcription	Fetal Heart	heart
45	chr6:28386800-28402200	Weak transcription	Placenta Amnion	Placenta Amnion

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