Variant report

Variant	rs62371222
Chromosome Location	chr5:68472715-68472716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:68472435-68473476	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:68472152-68473544	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:68470570-68475878	K562	blood:	n/a	n/a
4	POLR2A	chr5:68472407-68472869	K562	blood:	n/a	n/a
5	POLR2A	chr5:68472690-68473381	U87	brain:	n/a	n/a
6	POLR2A	chr5:68472467-68472765	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr5:68472633-68472951	K562	blood:	n/a	n/a
8	POLR2A	chr5:68472665-68472967	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr5:68472548-68472813	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:68472656-68472767	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:68472663-68473272	K562	blood:	n/a	n/a
12	POLR2A	chr5:68472557-68472767	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr5:68472638-68473346	U87	brain:	n/a	n/a
14	POLR2A	chr5:68472650-68472781	ProgFib	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:68462470..68464043-chr5:68472593..68475057,3	MCF-7	breast:
2	chr5:68470678..68474023-chr5:68481300..68486180,5	MCF-7	breast:
3	chr5:68471354..68475028-chr5:68512445..68515750,4	K562	blood:

No data

Variant related genes	Relation type
CCNB1	TF binding region
ENSG00000238334	TF binding region
ENSG00000134057	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000134056	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17236331	1.00[ASN][1000 genomes]
rs17271888	1.00[ASN][1000 genomes]
rs61730508	1.00[ASN][1000 genomes]
rs62356860	1.00[ASN][1000 genomes]
rs62371185	1.00[ASN][1000 genomes]
rs62371187	1.00[ASN][1000 genomes]
rs62371224	1.00[ASN][1000 genomes]
rs62371695	1.00[ASN][1000 genomes]
rs62373160	1.00[ASN][1000 genomes]
rs62373165	1.00[AMR][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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3445512	chr5:68472245-68495835	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68463800-68484400	Weak transcription	Adipose Nuclei	Adipose
2	chr5:68463800-68484400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:68463800-68484400	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:68464000-68472800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:68464000-68473000	Weak transcription	Esophagus	oesophagus
6	chr5:68464000-68473400	Weak transcription	Fetal Brain Male	brain
7	chr5:68464000-68475000	Weak transcription	Colonic Mucosa	Colon
8	chr5:68464000-68476200	Weak transcription	Stomach Mucosa	stomach
9	chr5:68464000-68478000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:68464000-68478800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:68464000-68484400	Weak transcription	Pancreas	Pancrea
12	chr5:68464000-68484600	Weak transcription	Right Atrium	heart
13	chr5:68464200-68474000	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr5:68464200-68474000	Weak transcription	Small Intestine	intestine
15	chr5:68464200-68474600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:68464200-68484600	Weak transcription	Left Ventricle	heart
17	chr5:68464400-68473200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:68464400-68473200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:68464400-68473600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:68464400-68479000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:68464400-68484400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:68464600-68473600	Strong transcription	Fetal Muscle Leg	muscle
23	chr5:68464600-68484400	Weak transcription	HSMMtube	muscle
24	chr5:68464800-68474000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:68464800-68474400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:68464800-68474400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:68464800-68474600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:68464800-68474600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:68464800-68474600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:68464800-68474600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:68465000-68473800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:68465200-68473000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:68465200-68474600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr5:68465400-68474000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:68465400-68474400	Strong transcription	HSMM	muscle
36	chr5:68465400-68474800	Strong transcription	NHEK	skin
37	chr5:68465600-68474800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:68465800-68473600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr5:68466200-68473800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:68466200-68473800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr5:68466200-68474000	Strong transcription	Fetal Thymus	thymus
42	chr5:68466200-68474000	Strong transcription	NH-A	brain
43	chr5:68466200-68474400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr5:68466200-68474400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr5:68466200-68474600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:68466400-68473400	Strong transcription	Thymus	Thymus
47	chr5:68466400-68473800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:68466400-68474000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:68466400-68474200	Strong transcription	Osteobl	bone
50	chr5:68466400-68474600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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