Variant report

Variant	rs6704177
Chromosome Location	chr1:151559598-151559599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151511523..151514176-chr1:151553602..151559967,11	MCF-7	breast:
2	1:151478607-151483211..1:151554759-151560153	Hela-S3	cervix:
3	chr1:151558823..151561382-chr1:151583549..151586141,3	MCF-7	breast:
4	chr1:151556789..151559689-chr1:151565337..151567125,2	MCF-7	breast:
5	1:151496437-151509688..1:151554759-151560153	Hela-S3	cervix:
6	chr1:151549985..151552778-chr1:151557616..151559684,2	MCF-7	breast:
7	1:151554759-151560153..1:151618750-151636526	Hela-S3	cervix:
8	chr1:151535660..151537996-chr1:151558543..151560169,2	MCF-7	breast:
9	1:151411623-151426875..1:151554759-151560153	Hela-S3	cervix:
10	chr1:151518375..151521328-chr1:151559247..151561666,2	MCF-7	breast:
11	chr1:151559403..151561467-chr1:151568084..151570388,2	MCF-7	breast:
12	1:151516085-151535167..1:151554759-151560153	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000250734	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10218788	0.99[EUR][1000 genomes]
rs10494267	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11807809	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12090862	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12564097	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12723898	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12734011	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12734511	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12747024	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12747990	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12751350	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1539490	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1891592	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1935886	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34180474	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34690266	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3748608	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3748609	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3748610	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4970919	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6587605	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6675022	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6679183	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6691958	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6698282	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7554707	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151533800-151561600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:151535800-151561800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:151550400-151559800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:151552600-151559800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:151554400-151560000	Weak transcription	Fetal Brain Female	brain
6	chr1:151554800-151559800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:151554800-151560000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:151554800-151566200	Weak transcription	Ovary	ovary
9	chr1:151555000-151560200	Enhancers	Placenta	Placenta
10	chr1:151555000-151568800	Weak transcription	Liver	Liver
11	chr1:151555200-151559800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:151555200-151559800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:151555400-151580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:151555600-151566600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:151556400-151559800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:151556400-151569200	Weak transcription	Pancreas	Pancrea
17	chr1:151556600-151559600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:151556600-151560000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:151556600-151566600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:151556800-151560000	Enhancers	Fetal Muscle Leg	muscle
21	chr1:151557000-151559800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:151557000-151566400	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:151557200-151560800	Weak transcription	Brain Germinal Matrix	brain
24	chr1:151557400-151559600	Enhancers	HSMM	muscle
25	chr1:151557400-151560000	Enhancers	HSMMtube	muscle
26	chr1:151557600-151560000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:151557600-151560000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:151557800-151561800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:151558200-151566600	Weak transcription	Fetal Stomach	stomach
30	chr1:151558600-151559800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:151558600-151559800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:151558600-151560200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:151558600-151566600	Weak transcription	Fetal Kidney	kidney
34	chr1:151558800-151559600	Enhancers	NHEK	skin
35	chr1:151558800-151559800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:151558800-151563400	Weak transcription	K562	blood
37	chr1:151559000-151560000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:151559000-151560000	Enhancers	Esophagus	oesophagus
39	chr1:151559200-151560400	Enhancers	HepG2	liver

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