Variant report

Variant	rs71356011
Chromosome Location	chr19:37177618-37177619
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:37177335-37179237	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr19:37177504-37178927	PANC-1	pancreas:	n/a	n/a
3	SPI1	chr19:37177508-37177913	HL-60	blood:	n/a	chr19:37177722-37177735
4	HCFC1	chr19:37177383-37179323	Hela-S3	cervix:	n/a	n/a
5	TCF12	chr19:37177468-37179257	A549	lung:	n/a	chr19:37178474-37178481 chr19:37178712-37178722
6	ZNF263	chr19:37177316-37179318	HEK293-T-REx	kidney:	n/a	n/a
7	MXI1	chr19:37177372-37179118	IMR90	lung:	n/a	n/a
8	POLR2A	chr19:37177531-37178950	PBDE	blood:	n/a	n/a
9	BCL3	chr19:37177178-37178903	A549	lung:	n/a	n/a
10	BCL3	chr19:37177611-37178935	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:37062686..37064573-chr19:37176993..37178796,2	MCF-7	breast:
2	chr19:37038036..37040830-chr19:37176881..37179372,3	MCF-7	breast:
3	chr19:36977782..36980646-chr19:37176349..37177933,2	K562	blood:
4	chr19:36705027..36707515-chr19:37176765..37178367,2	MCF-7	breast:
5	chr19:37157483..37161085-chr19:37175435..37180024,4	MCF-7	breast:
6	chr19:37171965..37174267-chr19:37175474..37177630,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF461-1	chr19:37177588-37177708	ENSG00000225975.1
2	lnc-ZNF461-1	chr19:37177588-37177708	ENSG00000225975.1
3	lnc-ZNF461-1	chr19:37177329-37177708	ENSG00000225975.2
4	lnc-ZNF461-1	chr19:37177588-37177708	ENSG00000225975.2
5	lnc-ZNF461-1	chr19:37177588-37177708	NONHSAT066036
6	lnc-ZNF461-1	chr19:37177588-37177708	NONHSAT066037

No data

Variant related genes	Relation type
ZNF567	TF binding region
ENSG00000186017	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000196357	Chromatin interaction
ENSG00000267309	Chromatin interaction
ENSG00000186020	Chromatin interaction
ENSG00000167635	Chromatin interaction
ENSG00000197808	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11882116	0.87[EUR][1000 genomes]
rs12978182	1.00[AFR][1000 genomes]
rs12979738	1.00[AFR][1000 genomes]
rs34141679	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34142892	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34304873	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35659382	0.85[EUR][1000 genomes]
rs35935605	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71356016	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71356018	1.00[AMR][1000 genomes]
rs8110468	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9676627	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	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
7	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
10	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv1061250	chr19:37134068-37188771	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
14	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37158600-37177800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:37169200-37177800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:37173200-37177800	Weak transcription	Aorta	Aorta
4	chr19:37176400-37178000	Flanking Active TSS	Liver	Liver
5	chr19:37176600-37178000	Flanking Active TSS	Dnd41	blood
6	chr19:37176800-37177800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr19:37176800-37177800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:37176800-37177800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:37176800-37177800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr19:37176800-37178000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr19:37176800-37178000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr19:37176800-37178200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr19:37176800-37178200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:37177000-37177800	Enhancers	Stomach Mucosa	stomach
15	chr19:37177000-37178000	Flanking Active TSS	Hela-S3	cervix
16	chr19:37177000-37178200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr19:37177000-37179400	Active TSS	HSMMtube	muscle
18	chr19:37177000-37179400	Active TSS	NHLF	lung
19	chr19:37177200-37177800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:37177200-37178000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr19:37177200-37178000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr19:37177200-37178000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:37177200-37178000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:37177200-37178000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr19:37177200-37178000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr19:37177200-37178000	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr19:37177200-37178200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr19:37177200-37178200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr19:37177200-37178200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:37177200-37178200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr19:37177200-37178200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr19:37177200-37178200	Flanking Active TSS	Fetal Brain Female	brain
33	chr19:37177200-37178200	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr19:37177200-37179000	Active TSS	A549	lung
35	chr19:37177200-37179200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:37177200-37179400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr19:37177200-37179400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr19:37177200-37179600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:37177200-37180000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr19:37177200-37180200	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr19:37177400-37177800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:37177400-37177800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:37177400-37177800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr19:37177400-37177800	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr19:37177400-37177800	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr19:37177400-37177800	Flanking Active TSS	HMEC	breast
47	chr19:37177400-37178000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr19:37177400-37178000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:37177400-37178000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr19:37177400-37178000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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