Variant report

Variant	rs35085540
Chromosome Location	chr1:193045639-193045640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193043234..193047012-chr1:193048456..193052530,5	K562	blood:
2	chr1:193038963..193041634-chr1:193044615..193046803,3	MCF-7	breast:
3	chr1:193028782..193030326-chr1:193044854..193047687,2	MCF-7	breast:
4	chr1:193037549..193041494-chr1:193043863..193047486,4	K562	blood:
5	chr1:193027593..193031183-chr1:193040127..193045745,5	MCF-7	breast:
6	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
7	chr1:193035173..193037682-chr1:193044708..193047101,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000023572	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000116747	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1075660	1.00[CHD][hapmap]
rs10921315	1.00[CHD][hapmap]
rs12405677	1.00[CHD][hapmap]
rs34839876	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4256792	1.00[CHD][hapmap]
rs4657844	1.00[CHD][hapmap]
rs7526267	1.00[CHD][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	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	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35085540	TROVE2	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193029400-193046400	Weak transcription	Gastric	stomach
2	chr1:193029400-193051800	Weak transcription	Esophagus	oesophagus
3	chr1:193029400-193051800	Weak transcription	Pancreas	Pancrea
4	chr1:193029800-193046400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:193030000-193046800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:193030200-193046000	Weak transcription	Thymus	Thymus
7	chr1:193030400-193046400	Weak transcription	Fetal Stomach	stomach
8	chr1:193030400-193046400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:193030400-193051600	Weak transcription	Colonic Mucosa	Colon
10	chr1:193030600-193046200	Weak transcription	Fetal Kidney	kidney
11	chr1:193030600-193048200	Weak transcription	Fetal Intestine Small	intestine
12	chr1:193030800-193045800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:193030800-193046000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:193030800-193046400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:193030800-193046400	Weak transcription	HSMMtube	muscle
16	chr1:193030800-193050400	Weak transcription	Brain Substantia Nigra	brain
17	chr1:193031200-193046800	Weak transcription	Fetal Brain Male	brain
18	chr1:193031400-193046000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:193032000-193046400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:193033200-193046000	Weak transcription	Small Intestine	intestine
21	chr1:193033200-193046400	Weak transcription	Right Ventricle	heart
22	chr1:193033200-193067600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:193033400-193046400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:193033400-193046600	Weak transcription	HMEC	breast
25	chr1:193033600-193045800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:193033600-193046600	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:193035800-193046400	Weak transcription	Aorta	Aorta
28	chr1:193037800-193051600	Weak transcription	Ovary	ovary
29	chr1:193038600-193046400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:193038800-193046000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:193038800-193046400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:193038800-193046600	Weak transcription	NHEK	skin
33	chr1:193039000-193046400	Weak transcription	Brain Angular Gyrus	brain
34	chr1:193039000-193046400	Weak transcription	HUVEC	blood vessel
35	chr1:193039200-193045800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:193039200-193045800	Weak transcription	Liver	Liver
37	chr1:193039200-193045800	Weak transcription	Osteobl	bone
38	chr1:193039200-193046000	Weak transcription	Fetal Intestine Large	intestine
39	chr1:193039200-193046000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:193039200-193046400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:193039200-193046400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:193039200-193051800	Weak transcription	Lung	lung
43	chr1:193039400-193045800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:193039400-193046600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:193039800-193046400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:193039800-193046400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:193040000-193046200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:193040400-193045800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:193040400-193045800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:193040400-193046000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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