Variant report

Variant	rs6704768
Chromosome Location	chr2:233592501-233592502
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	chr2:233591305..233594002-chr2:233611275..233613408,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10205801	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1022330	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs10933412	0.80[JPT][hapmap]
rs11555646	0.81[JPT][hapmap]
rs11676216	0.81[JPT][hapmap]
rs11679079	0.81[JPT][hapmap]
rs12105766	0.89[TSI][hapmap]
rs12474040	0.84[JPT][hapmap]
rs12990821	0.81[JPT][hapmap]
rs13003675	0.81[JPT][hapmap]
rs13004406	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs13011298	0.84[JPT][hapmap]
rs13013142	0.81[JPT][hapmap]
rs1446308	0.81[JPT][hapmap]
rs1801251	0.81[JPT][hapmap]
rs1867778	0.81[JPT][hapmap]
rs1947105	0.81[JPT][hapmap]
rs1973675	0.89[TSI][hapmap]
rs2012221	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs2100053	0.81[JPT][hapmap]
rs2197563	0.81[JPT][hapmap]
rs2305141	0.81[JPT][hapmap]
rs2592115	0.81[JPT][hapmap]
rs2592116	0.81[JPT][hapmap]
rs2592117	0.81[JPT][hapmap]
rs2592126	0.85[JPT][hapmap]
rs2674839	0.81[JPT][hapmap]
rs2675966	0.81[JPT][hapmap]
rs2675967	0.81[JPT][hapmap]
rs2675971	0.81[JPT][hapmap]
rs2675974	0.81[JPT][hapmap]
rs283468	0.80[JPT][hapmap]
rs283469	0.81[JPT][hapmap]
rs283471	0.81[JPT][hapmap]
rs283475	0.81[JPT][hapmap]
rs283476	0.81[JPT][hapmap]
rs283486	0.81[JPT][hapmap]
rs3817311	0.81[JPT][hapmap]
rs4973054	0.81[JPT][hapmap]
rs4973055	0.81[JPT][hapmap]
rs6437074	0.81[JPT][hapmap]
rs6704763	0.87[TSI][hapmap]
rs6714245	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs6719061	0.81[JPT][hapmap]
rs6738386	0.81[JPT][hapmap]
rs6745879	0.81[JPT][hapmap]
rs6746294	0.81[JPT][hapmap]
rs6747645	0.85[JPT][hapmap]
rs6748027	0.81[JPT][hapmap]
rs709933	0.81[JPT][hapmap]
rs709934	0.81[JPT][hapmap]
rs737028	0.81[JPT][hapmap]
rs7558609	0.81[JPT][hapmap]
rs7589201	0.81[JPT][hapmap]
rs7606090	0.81[JPT][hapmap]
rs778338	0.81[JPT][hapmap]
rs778340	0.81[JPT][hapmap]
rs809639	0.81[JPT][hapmap]
rs812383	0.81[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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Schizophrenia	25056061	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6704768	C2orf82	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233564200-233596400	Weak transcription	NHLF	lung
2	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:233564800-233592800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
5	chr2:233565200-233602000	Weak transcription	HUVEC	blood vessel
6	chr2:233565200-233606400	Weak transcription	Stomach Mucosa	stomach
7	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:233566800-233612800	Weak transcription	Small Intestine	intestine
9	chr2:233568000-233604400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:233569200-233615000	Weak transcription	Colonic Mucosa	Colon
11	chr2:233569400-233612800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:233569400-233615400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:233570600-233593400	Weak transcription	Aorta	Aorta
14	chr2:233571200-233593600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:233571200-233598200	Weak transcription	Fetal Kidney	kidney
16	chr2:233571200-233627400	Weak transcription	Gastric	stomach
17	chr2:233571400-233601800	Weak transcription	Esophagus	oesophagus
18	chr2:233571600-233612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:233572200-233593200	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:233574400-233593400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:233580000-233606000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:233580200-233596000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:233580600-233604000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:233580800-233595200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:233581000-233594200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:233582800-233592800	Weak transcription	HSMMtube	muscle
27	chr2:233584400-233592600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:233585400-233595000	Strong transcription	HepG2	liver
30	chr2:233585600-233595000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:233585600-233595200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:233585800-233604400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
34	chr2:233586400-233595800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:233586400-233603200	Strong transcription	Fetal Thymus	thymus
36	chr2:233586400-233612200	Weak transcription	Brain Substantia Nigra	brain
37	chr2:233586800-233599000	Weak transcription	K562	blood
38	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
39	chr2:233587200-233596600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr2:233587200-233604400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:233587200-233613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:233587400-233594200	Weak transcription	Ovary	ovary
43	chr2:233587400-233594200	Weak transcription	Right Ventricle	heart
44	chr2:233588400-233595000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:233588400-233595200	Strong transcription	Fetal Stomach	stomach
46	chr2:233588400-233599600	Strong transcription	Primary T cells from cord blood	blood
47	chr2:233588600-233595000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:233588600-233595600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:233588600-233597000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:233588800-233595000	Strong transcription	Fetal Muscle Leg	muscle

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