Variant report

Variant	rs11571552
Chromosome Location	chr1:212792191-212792192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:212791953-212792553	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:212791375-212796129	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:212791248-212795288	K562	blood:	n/a	n/a
4	POLR2A	chr1:212791471-212796183	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:212792051-212792230	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:212791929-212792561	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:212792022-212792222	HCT-116	colon:	n/a	n/a
8	POLR2A	chr1:212792061-212792271	HCT-116	colon:	n/a	n/a
9	POLR2A	chr1:212791926-212796124	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:212791976-212792293	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:212791413-212796094	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:212792122-212796581	K562	blood:	n/a	n/a
13	POLR2A	chr1:212780144-212798001	IMR90	lung:	n/a	n/a
14	POLR2A	chr1:212791371-212794027	K562	blood:	n/a	n/a
15	POLR2A	chr1:212789869-212796544	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:212782514-212798502	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212780858..212783878-chr1:212789179..212792370,4	MCF-7	breast:
2	chr1:212791964..212794930-chr1:212795751..212797636,2	MCF-7	breast:
3	chr1:212685711..212688153-chr1:212791617..212793606,2	K562	blood:
4	chr1:212780718..212783003-chr1:212791399..212793440,2	MCF-7	breast:
5	chr1:212790623..212792984-chr1:212868720..212871202,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL512P	TF binding region
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11571532	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571536	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571538	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17019442	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs35777725	1.00[ASN][1000 genomes]
rs3890801	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs55854080	1.00[ASN][1000 genomes]
rs6540751	1.00[ASN][1000 genomes]
rs6656504	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6666492	1.00[CEU][hapmap]
rs6670396	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6682816	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72756370	1.00[ASN][1000 genomes]
rs72756371	1.00[ASN][1000 genomes]
rs74138596	1.00[ASN][1000 genomes]
rs74138599	1.00[ASN][1000 genomes]
rs74138600	1.00[ASN][1000 genomes]
rs74138601	1.00[ASN][1000 genomes]
rs7551520	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212784000-212794200	Weak transcription	HUVEC	blood vessel
2	chr1:212784200-212796800	Weak transcription	Stomach Mucosa	stomach
3	chr1:212784800-212794800	Weak transcription	NH-A	brain
4	chr1:212785000-212797000	Weak transcription	Right Atrium	heart
5	chr1:212785000-212801000	Weak transcription	Fetal Heart	heart
6	chr1:212785400-212795600	Weak transcription	A549	lung
7	chr1:212785800-212792400	Weak transcription	Small Intestine	intestine
8	chr1:212786400-212794000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:212786600-212795200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:212787000-212794000	Strong transcription	Fetal Intestine Small	intestine
11	chr1:212787000-212794400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr1:212787600-212792400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:212787600-212793800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:212787600-212793800	Strong transcription	Right Ventricle	heart
15	chr1:212787600-212793800	Strong transcription	K562	blood
16	chr1:212787600-212794400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:212787600-212794400	Strong transcription	NHLF	lung
18	chr1:212787600-212795000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:212788000-212794200	Strong transcription	Fetal Stomach	stomach
20	chr1:212788200-212792400	Strong transcription	Lung	lung
21	chr1:212788200-212793600	Strong transcription	HepG2	liver
22	chr1:212788200-212794200	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:212788200-212794400	Strong transcription	Adipose Nuclei	Adipose
24	chr1:212788200-212794400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:212788200-212794600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:212788200-212794600	Strong transcription	Fetal Muscle Leg	muscle
27	chr1:212788200-212794800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:212788200-212795000	Strong transcription	Liver	Liver
29	chr1:212788200-212795200	Strong transcription	Placenta	Placenta
30	chr1:212788400-212792200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:212788400-212792600	Strong transcription	Hela-S3	cervix
32	chr1:212788400-212793000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:212788400-212793200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:212788400-212793200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:212788400-212793400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:212788400-212793400	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr1:212788400-212793600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:212788400-212793600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:212788400-212793800	Strong transcription	Brain Anterior Caudate	brain
40	chr1:212788400-212793800	Strong transcription	Gastric	stomach
41	chr1:212788400-212793800	Strong transcription	Rectal Smooth Muscle	rectum
42	chr1:212788400-212793800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:212788400-212794200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:212788400-212794200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:212788400-212794400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:212788400-212794400	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr1:212788400-212794600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:212788400-212794800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:212788400-212794800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:212788400-212795000	Weak transcription	Fetal Thymus	thymus

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