Variant report

Variant	rs61736195
Chromosome Location	chr5:179269011-179269012
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179262507-179269414	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr5:179266135-179269441	U87	brain:	n/a	n/a
3	POLR2A	chr5:179267289-179269268	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:179267276-179269236	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr5:179263086-179269260	IMR90	lung:	n/a	n/a
6	POLR2A	chr5:179263338-179269338	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr5:179262516-179269530	A549	lung:	n/a	n/a
8	POLR2A	chr5:179266049-179269325	U87	brain:	n/a	n/a
9	POLR2A	chr5:179262939-179269368	U87	brain:	n/a	n/a
10	BCL3	chr5:179267094-179269114	A549	lung:	n/a	n/a
11	POLR2A	chr5:179268993-179269145	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr5:179262984-179269243	U87	brain:	n/a	n/a
13	CTCF	chr5:179268980-179269130	RPTEC	kidney:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6178646..6179311-chr5:179268532..179269425,2	MCF-7	breast:
2	chr5:179267574..179269837-chr5:179280318..179284671,3	MCF-7	breast:
3	chr5:179246564..179250154-chr5:179266751..179272341,6	MCF-7	breast:
4	chr5:179193680..179196037-chr5:179266689..179269307,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D9B-1	chr5:179269000-179269064	NONHSAT105640
2	lnc-TBC1D9B-1	chr5:179268907-179269064	NONHSAT105643
3	lnc-TBC1D9B-1	chr5:179268458-179269064	NONHSAT105644

No data

Variant related genes	Relation type
C5orf45	TF binding region
RN7SKP150	TF binding region
ENSG00000161021	Chromatin interaction
ENSG00000161011	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10075090	0.87[EUR][1000 genomes]
rs399299	1.00[EUR][1000 genomes]
rs6861674	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72813735	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
7	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
9	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
10	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 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	chr5:179250200-179272000	Strong transcription	Fetal Muscle Leg	muscle
2	chr5:179250200-179272800	Weak transcription	Fetal Brain Male	brain
3	chr5:179258200-179274800	Weak transcription	Fetal Heart	heart
4	chr5:179262400-179269200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:179262400-179269400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:179262400-179269400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:179262400-179269400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:179262400-179269400	Strong transcription	Brain Angular Gyrus	brain
9	chr5:179262400-179271000	Strong transcription	Fetal Stomach	stomach
10	chr5:179262400-179271400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:179262400-179271600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:179262400-179272000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:179262600-179269200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:179262600-179279400	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr5:179262800-179269200	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr5:179263000-179269200	Strong transcription	Primary T cells from cord blood	blood
17	chr5:179263000-179269800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:179263000-179271000	Strong transcription	Brain Germinal Matrix	brain
19	chr5:179263000-179271400	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:179263000-179271800	Strong transcription	Fetal Lung	lung
21	chr5:179263000-179279600	Strong transcription	Brain Anterior Caudate	brain
22	chr5:179263000-179279800	Strong transcription	Brain Hippocampus Middle	brain
23	chr5:179263000-179280400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:179263200-179269600	Strong transcription	Fetal Brain Female	brain
25	chr5:179263600-179280200	Strong transcription	Colon Smooth Muscle	Colon
26	chr5:179263800-179269200	Strong transcription	Placenta	Placenta
27	chr5:179263800-179271000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:179263800-179271800	Strong transcription	Ovary	ovary
29	chr5:179264000-179269200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:179264000-179269400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:179264000-179269400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:179264000-179269600	Strong transcription	Esophagus	oesophagus
33	chr5:179264000-179271200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr5:179264200-179269200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr5:179264200-179269200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:179264200-179269200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:179264400-179269200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:179264400-179269200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:179264400-179271200	Strong transcription	Fetal Intestine Small	intestine
40	chr5:179264400-179273800	Weak transcription	K562	blood
41	chr5:179264400-179275000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:179264400-179275200	Weak transcription	Fetal Kidney	kidney
43	chr5:179264600-179269200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:179264600-179269200	Strong transcription	Gastric	stomach
45	chr5:179264600-179269400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:179264600-179269400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:179264600-179269400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr5:179264600-179271600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr5:179264600-179285000	Weak transcription	Psoas Muscle	Psoas
50	chr5:179264800-179269200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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