Variant report

Variant	rs34288890
Chromosome Location	chr1:93246400-93246401
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93242184..93247777-chr1:93248755..93252044,8	K562	blood:
2	chr1:93244037..93247777-chr1:93248755..93251898,4	K562	blood:
3	chr1:93243984..93247027-chr1:93248183..93251287,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067208	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11164803	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164814	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11164816	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11577426	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11578004	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11581705	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11583778	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11585590	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800409	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803097	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805229	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11805698	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809055	0.81[EUR][1000 genomes]
rs11810217	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12731107	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12743005	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12746893	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749480	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749786	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756698	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2051841	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34202284	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34250288	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34305407	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34343030	0.94[ASN][1000 genomes]
rs34761380	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34843292	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35038369	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35241270	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35311203	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35435370	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35526187	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35612297	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35699160	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35705463	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901796	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36099538	0.94[ASN][1000 genomes]
rs59864761	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71652503	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724574	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72724586	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724587	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93211800-93249200	Weak transcription	Fetal Stomach	stomach
2	chr1:93214000-93248400	Weak transcription	Lung	lung
3	chr1:93222000-93248000	Weak transcription	HSMMtube	muscle
4	chr1:93222400-93248200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:93222400-93248200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:93222400-93248400	Weak transcription	Placenta	Placenta
7	chr1:93222600-93246800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:93225600-93248000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:93226000-93249200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:93231600-93248000	Weak transcription	Adipose Nuclei	Adipose
11	chr1:93234400-93248000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:93234600-93248000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:93234800-93248200	Weak transcription	Primary B cells from cord blood	blood
14	chr1:93234800-93249200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:93235000-93248200	Weak transcription	NHLF	lung
16	chr1:93235200-93247200	Weak transcription	NHEK	skin
17	chr1:93235600-93248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:93236200-93247800	Weak transcription	Hela-S3	cervix
19	chr1:93238800-93246800	Weak transcription	Gastric	stomach
20	chr1:93239600-93249400	Weak transcription	Ovary	ovary
21	chr1:93240200-93247200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:93240200-93248400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:93240600-93249400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:93240600-93249400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:93240800-93248000	Weak transcription	K562	blood
26	chr1:93240800-93248400	Weak transcription	Pancreas	Pancrea
27	chr1:93240800-93248800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:93240800-93249600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:93241000-93247200	Weak transcription	Left Ventricle	heart
30	chr1:93241000-93249400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:93241000-93249400	Weak transcription	Brain Angular Gyrus	brain
32	chr1:93241200-93247800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:93241200-93248000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:93241200-93248200	Weak transcription	Brain Substantia Nigra	brain
35	chr1:93241200-93249400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:93241400-93248600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:93241600-93248600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:93242400-93248400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:93243400-93247800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:93243400-93249600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:93243600-93249200	Weak transcription	GM12878-XiMat	blood
42	chr1:93243800-93247000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:93244000-93248400	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:93244200-93247200	Weak transcription	Right Atrium	heart
45	chr1:93244200-93247800	Weak transcription	Fetal Heart	heart
46	chr1:93244200-93247800	Weak transcription	HMEC	breast
47	chr1:93244200-93248600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:93244200-93249000	Weak transcription	Aorta	Aorta
49	chr1:93244400-93247200	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:93244600-93248000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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