Variant report

Variant	rs2370027
Chromosome Location	chr1:193131467-193131468
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193130707..193133682-chr1:193139194..193140778,2	K562	blood:
2	chr1:193131251..193133422-chr1:193136477..193138885,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10801187	0.81[EUR][1000 genomes]
rs10921323	0.81[EUR][1000 genomes]
rs6428155	0.81[EUR][1000 genomes]
rs6663162	0.80[EUR][1000 genomes]
rs7546869	0.81[EUR][1000 genomes]
rs7554925	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv3340606	chr1:193129854-193132702	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3363374	chr1:193129929-193132527	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3402522	chr1:193130379-193132027	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2370027	TROVE2	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193092600-193141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
3	chr1:193101000-193140000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:193104200-193135000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:193106000-193140800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:193110000-193139600	Weak transcription	Esophagus	oesophagus
7	chr1:193110000-193149400	Weak transcription	Right Ventricle	heart
8	chr1:193110000-193155200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:193111600-193137600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:193115800-193142000	Weak transcription	Spleen	Spleen
11	chr1:193116000-193132200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:193116600-193149400	Weak transcription	Brain Germinal Matrix	brain
13	chr1:193118000-193147800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:193119600-193137600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:193120200-193141600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:193120400-193150400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:193120600-193135800	Weak transcription	Psoas Muscle	Psoas
18	chr1:193120600-193142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:193121000-193143800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:193121000-193155200	Weak transcription	Pancreas	Pancrea
21	chr1:193121200-193132200	Weak transcription	Fetal Stomach	stomach
22	chr1:193121600-193137400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:193122400-193142400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:193123200-193140000	Weak transcription	Ovary	ovary
25	chr1:193123200-193147400	Weak transcription	Fetal Brain Female	brain
26	chr1:193123200-193151600	Weak transcription	Fetal Kidney	kidney
27	chr1:193123200-193153600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:193123400-193131600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:193123400-193131600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:193123400-193133800	Weak transcription	HMEC	breast
31	chr1:193123400-193139000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:193123400-193140000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:193123400-193140000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:193123400-193140000	Weak transcription	HSMMtube	muscle
35	chr1:193123400-193142000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:193123400-193143000	Weak transcription	Lung	lung
37	chr1:193123400-193147600	Weak transcription	Fetal Brain Male	brain
38	chr1:193123400-193155200	Weak transcription	Thymus	Thymus
39	chr1:193123600-193140000	Weak transcription	Fetal Lung	lung
40	chr1:193123600-193149600	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:193123800-193141600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:193123800-193141800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:193123800-193147800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:193123800-193150400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:193123800-193153200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:193124000-193152000	Weak transcription	Liver	Liver
47	chr1:193124000-193153600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr1:193124000-193154200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:193124200-193132400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:193124200-193135600	Weak transcription	GM12878-XiMat	blood

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