Variant report

Variant	rs1059310
Chromosome Location	chr2:39212637-39212638
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	chr2:39193184..39195918-chr2:39211170..39213128,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2888586	0.89[GIH][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap]
rs963828	0.90[CHB][hapmap];0.84[JPT][hapmap]

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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1059310	MORN2	cis	parietal	SCAN
rs1059310	DHX57	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39188000-39213000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:39188000-39222400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:39194000-39213000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:39194400-39218600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:39194600-39212800	Weak transcription	Spleen	Spleen
6	chr2:39197000-39225800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:39199600-39220000	Weak transcription	Brain Germinal Matrix	brain
8	chr2:39200800-39227800	Weak transcription	Fetal Heart	heart
9	chr2:39201600-39212800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:39201800-39212800	Weak transcription	Brain Angular Gyrus	brain
11	chr2:39201800-39218600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:39202000-39218800	Weak transcription	Brain Substantia Nigra	brain
13	chr2:39202000-39221800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:39202400-39225600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:39202400-39228800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:39202800-39217000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:39205200-39212800	Weak transcription	Left Ventricle	heart
18	chr2:39205800-39242600	Weak transcription	Psoas Muscle	Psoas
19	chr2:39206000-39212800	Weak transcription	Thymus	Thymus
20	chr2:39206000-39235800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:39207000-39212800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:39207000-39212800	Weak transcription	Fetal Brain Male	brain
23	chr2:39207600-39212800	Weak transcription	Esophagus	oesophagus
24	chr2:39207600-39224400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:39207800-39212800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:39209200-39222400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:39209200-39224000	Strong transcription	Placenta	Placenta
28	chr2:39209400-39212800	Weak transcription	Fetal Intestine Small	intestine
29	chr2:39209600-39212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:39209800-39224400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:39210000-39213400	Strong transcription	Primary hematopoietic stem cells	blood
32	chr2:39210000-39232000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:39210200-39215400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:39210200-39216600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:39210400-39213400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:39210400-39216800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:39210400-39224800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:39210400-39233200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:39210400-39241600	Strong transcription	Adipose Nuclei	Adipose
40	chr2:39210400-39242600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:39210600-39213000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:39210600-39213400	Strong transcription	HSMM	muscle
43	chr2:39210600-39214800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:39210600-39215400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:39210600-39229400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:39210600-39242400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:39210800-39212800	Weak transcription	K562	blood
48	chr2:39210800-39213200	Strong transcription	HMEC	breast
49	chr2:39210800-39213400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:39210800-39213800	Strong transcription	Brain Hippocampus Middle	brain

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