Variant report

Variant	rs11671057
Chromosome Location	chr19:37825867-37825868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr19:37825193-37825880	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELF1	chr19:37824960-37825923	MCF-7	breast:	n/a	n/a
3	POLR2A	chr19:37824917-37826052	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:37825101-37826044	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr19:37825231-37825906	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:37824986-37826276	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:37825004-37826021	MCF-7	breast:	n/a	n/a
8	POLR2A	chr19:37825168-37826075	GM12891	blood:	n/a	n/a
9	POLR2A	chr19:37825295-37825984	GM12892	blood:	n/a	n/a
10	POLR2A	chr19:37824898-37825984	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr19:37824749-37826961	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr19:37825005-37825946	MCF-7	breast:	n/a	n/a
13	POLR2A	chr19:37824978-37826034	GM12891	blood:	n/a	n/a
14	POLR2A	chr19:37825229-37825915	PBDE	blood:	n/a	n/a
15	REST	chr19:37825114-37826336	H1-neurons	neurons:	n/a	chr19:37825398-37825416
16	MAX	chr19:37824976-37825881	MCF-7	breast:	n/a	n/a
17	POLR2A	chr19:37824866-37826168	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAZ	chr19:37824818-37826335	IMR90	lung:	n/a	n/a
19	SIN3AK20	chr19:37825079-37825873	PANC-1	pancreas:	n/a	n/a
20	HA-E2F1	chr19:37825301-37825918	MCF-7	breast:	n/a	chr19:37825538-37825547 chr19:37825536-37825545
21	SIN3AK20	chr19:37825081-37825867	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr19:37825125-37825880	SK-N-SH	brain:	n/a	n/a
23	GABPA	chr19:37825080-37825976	HL-60	blood:	n/a	n/a
24	POLR2A	chr19:37825025-37826071	HL-60	blood:	n/a	n/a
25	GABPA	chr19:37825181-37825913	HL-60	blood:	n/a	n/a
26	POLR2A	chr19:37825305-37826017	GM12892	blood:	n/a	n/a
27	GTF2F1	chr19:37825296-37825962	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr19:37825338-37825909	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr19:37824989-37826546	Hela-S3	cervix:	n/a	n/a
30	SIN3A	chr19:37824970-37826032	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr19:37825197-37826088	HL-60	blood:	n/a	n/a
32	POLR2A	chr19:37825355-37825991	GM12878	blood:	n/a	n/a
33	CREB1	chr19:37825211-37825979	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:37825122-37825936	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr19:37825362-37825875	ECC-1	luminal epithelium:	n/a	n/a
36	CTCF	chr19:37825860-37826010	HEK293	kidney:	n/a	n/a
37	NFATC1	chr19:37825254-37825880	GM12878	blood:	n/a	n/a
38	GABPA	chr19:37825059-37825940	MCF-7	breast:	n/a	n/a
39	HCFC1	chr19:37825065-37826256	Hela-S3	cervix:	n/a	n/a
40	MTA3	chr19:37825286-37826019	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:37825345-37825934	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr19:37825388-37825953	GM18526	blood:	n/a	n/a
43	POLR2A	chr19:37825028-37826206	PANC-1	pancreas:	n/a	n/a
44	MAX	chr19:37825297-37825941	SK-N-SH	brain:	n/a	n/a
45	ELF1	chr19:37825158-37826079	GM12878	blood:	n/a	n/a
46	MXI1	chr19:37825133-37825990	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr19:37824979-37825963	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr19:37825111-37825940	MCF-7	breast:	n/a	n/a
49	POLR2A	chr19:37824845-37826144	PANC-1	pancreas:	n/a	n/a
50	POLR2A	chr19:37824957-37825880	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:37824652..37827295-chr19:37827971..37830773,4	MCF-7	breast:
2	chr19:37822549..37827431-chr19:37836072..37838954,4	MCF-7	breast:
3	chr19:37807599..37810002-chr19:37824275..37826787,2	MCF-7	breast:
4	chr19:37806982..37809957-chr19:37825534..37828988,3	MCF-7	breast:
5	chr19:37825178..37827025-chr19:37995882..37998065,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267682	TF binding region
ENSG00000267682	Chromatin interaction
ENSG00000188227	Chromatin interaction
ENSG00000266916	Chromatin interaction
ENSG00000181666	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11666138	1.00[EUR][1000 genomes]
rs11666699	1.00[ASN][1000 genomes]
rs11667497	1.00[ASN][1000 genomes]
rs11667853	1.00[EUR][1000 genomes]
rs11667866	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668217	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668546	1.00[EUR][1000 genomes]
rs11669502	1.00[ASN][1000 genomes]
rs11671358	1.00[ASN][1000 genomes]
rs11671510	1.00[ASN][1000 genomes]
rs11672064	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672330	1.00[ASN][1000 genomes]
rs16973488	1.00[ASN][1000 genomes]
rs2216690	1.00[EUR][1000 genomes]
rs35895160	1.00[ASN][1000 genomes]
rs56822639	1.00[ASN][1000 genomes]
rs61741499	1.00[EUR][1000 genomes]
rs6508730	1.00[ASN][1000 genomes]
rs6508731	1.00[ASN][1000 genomes]
rs7245717	1.00[ASN][1000 genomes]
rs7246762	1.00[ASN][1000 genomes]
rs7257174	1.00[ASN][1000 genomes]
rs8103087	1.00[ASN][1000 genomes]
rs8104809	1.00[ASN][1000 genomes]
rs8106641	1.00[EUR][1000 genomes]
rs8108658	1.00[ASN][1000 genomes]
rs8108739	1.00[ASN][1000 genomes]

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	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr19:37823400-37827200	ZNF genes & repeats	A549	lung
2	chr19:37824200-37826200	Active TSS	Sigmoid Colon	Sigmoid Colon
3	chr19:37824400-37826400	Active TSS	Colonic Mucosa	Colon
4	chr19:37824600-37826800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
5	chr19:37824800-37826000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
6	chr19:37824800-37826000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr19:37824800-37826000	Active TSS	Fetal Brain Female	brain
8	chr19:37824800-37826000	ZNF genes & repeats	Lung	lung
9	chr19:37824800-37826000	Active TSS	Small Intestine	intestine
10	chr19:37824800-37826200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr19:37824800-37826200	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr19:37824800-37826200	Active TSS	Fetal Intestine Large	intestine
13	chr19:37824800-37826200	Active TSS	Rectal Smooth Muscle	rectum
14	chr19:37824800-37826200	Active TSS	Right Atrium	heart
15	chr19:37824800-37826400	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr19:37824800-37826400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr19:37824800-37826600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr19:37824800-37826600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:37825000-37826000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr19:37825000-37826000	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr19:37825000-37826000	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr19:37825000-37826000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:37825000-37826000	Active TSS	Hela-S3	cervix
24	chr19:37825000-37826200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:37825000-37826200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr19:37825000-37826200	Active TSS	Placenta Amnion	Placenta Amnion
27	chr19:37825000-37826400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr19:37825000-37826400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr19:37825000-37826400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:37825000-37826400	Active TSS	Aorta	Aorta
31	chr19:37825000-37826400	Flanking Active TSS	Placenta	Placenta
32	chr19:37825000-37826600	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr19:37825000-37826600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr19:37825000-37826800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:37825000-37826800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:37825200-37826000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:37825200-37826000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:37825200-37826000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:37825200-37826000	Active TSS	Brain Angular Gyrus	brain
40	chr19:37825200-37826000	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr19:37825200-37826000	Active TSS	Brain Substantia Nigra	brain
42	chr19:37825200-37826000	Active TSS	Colon Smooth Muscle	Colon
43	chr19:37825200-37826000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr19:37825200-37826000	Active TSS	Fetal Thymus	thymus
45	chr19:37825200-37826000	Active TSS	Right Ventricle	heart
46	chr19:37825200-37826200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:37825200-37826200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:37825200-37826200	Active TSS	Brain Anterior Caudate	brain
49	chr19:37825200-37826200	Active TSS	Fetal Kidney	kidney
50	chr19:37825200-37826200	Active TSS	Left Ventricle	heart

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