Variant report

Variant	rs771205
Chromosome Location	chr1:150975108-150975109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr1:150975098-150975573	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150947267..150950099-chr1:150971491..150975400,3	K562	blood:
2	chr1:150974834..150982774-chr1:151014282..151023779,19	MCF-7	breast:
3	chr1:150549758..150552214-chr1:150974117..150976189,2	MCF-7	breast:
4	chr1:150973043..150975367-chr1:151142300..151144414,2	MCF-7	breast:
5	chr1:150896490..150900327-chr1:150972734..150976492,4	K562	blood:
6	chr1:150950305..150952431-chr1:150971107..150975123,3	K562	blood:
7	chr1:150973924..150975447-chr1:151029074..151032058,2	K562	blood:
8	chr1:150945097..150946839-chr1:150973464..150975553,2	K562	blood:
9	chr1:150954755..150957126-chr1:150972520..150975361,2	K562	blood:

No data

Variant related genes	Relation type
FAM63A	TF binding region
ENSG00000143384	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000163141	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000231073	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11579289	0.93[ASN][1000 genomes]
rs12040707	0.88[ASN][1000 genomes]
rs12042263	0.88[ASN][1000 genomes]
rs12044969	0.98[ASN][1000 genomes]
rs16832604	0.92[CHB][hapmap];0.95[ASN][1000 genomes]
rs2305812	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305815	0.95[ASN][1000 genomes]
rs267736	0.93[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs34090972	0.90[ASN][1000 genomes]
rs3754210	0.93[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs533928	0.85[ASN][1000 genomes]
rs539118	0.96[ASN][1000 genomes]
rs61817649	0.87[ASN][1000 genomes]
rs6671489	0.90[ASN][1000 genomes]
rs6679701	0.93[CHB][hapmap];0.89[CHD][hapmap]
rs6688248	0.87[ASN][1000 genomes]
rs72706512	0.90[ASN][1000 genomes]
rs74125014	0.90[EUR][1000 genomes]
rs7521445	0.88[ASN][1000 genomes]
rs7535032	0.92[ASN][1000 genomes]
rs7535848	0.87[ASN][1000 genomes]
rs771203	0.96[ASN][1000 genomes]
rs771204	0.93[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription 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	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150955400-150978800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:150961800-150978200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:150967600-150975200	Strong transcription	Fetal Intestine Small	intestine
4	chr1:150967600-150975600	Strong transcription	Fetal Stomach	stomach
5	chr1:150967600-150978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:150968000-150975200	Weak transcription	Small Intestine	intestine
7	chr1:150968200-150977400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:150968400-150975200	Weak transcription	Hela-S3	cervix
9	chr1:150968400-150978000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:150968400-150978000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:150968400-150978000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:150968600-150975400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr1:150968600-150975600	Weak transcription	Psoas Muscle	Psoas
14	chr1:150968600-150975600	Weak transcription	GM12878-XiMat	blood
15	chr1:150968600-150977400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:150968600-150977400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:150968600-150977400	Weak transcription	NHDF-Ad	bronchial
18	chr1:150968600-150978000	Weak transcription	A549	lung
19	chr1:150969400-150975200	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr1:150969400-150975200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:150969400-150975400	Strong transcription	Fetal Intestine Large	intestine
22	chr1:150969400-150975800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:150969600-150975400	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:150970000-150978400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:150970400-150975600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:150970400-150978000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:150970600-150976800	Weak transcription	HMEC	breast
28	chr1:150970800-150975400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:150970800-150978200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:150971000-150976800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:150972000-150975400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:150972000-150977400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:150972000-150978200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:150972000-150978400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:150972200-150975600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:150972200-150978000	Enhancers	K562	blood
37	chr1:150972400-150975200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:150972400-150975200	Weak transcription	Fetal Kidney	kidney
39	chr1:150972400-150975800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:150972400-150978000	Weak transcription	Aorta	Aorta
41	chr1:150972600-150977400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:150972800-150975200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:150972800-150978000	Weak transcription	HUVEC	blood vessel
44	chr1:150973000-150975400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:150973000-150975600	Weak transcription	NH-A	brain
46	chr1:150973000-150978000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:150973000-150978000	Weak transcription	HSMM	muscle
48	chr1:150973000-150978000	Weak transcription	HSMMtube	muscle
49	chr1:150973200-150977400	Weak transcription	Osteobl	bone
50	chr1:150973600-150975200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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