Variant report

Variant	rs60785167
Chromosome Location	chr2:55239727-55239728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:55239286-55240050	U87	brain:	n/a	n/a
2	POLR2A	chr2:55222320-55241658	K562	blood:	n/a	n/a
3	TCF7L2	chr2:55239180-55240291	HEK293	kidney:	n/a	n/a
4	POLR2A	chr2:55238935-55240618	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr2:55239343-55240233	U87	brain:	n/a	n/a
6	FOXA1	chr2:55239544-55240007	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:55239286-55240021	U87	brain:	n/a	n/a
8	POLR2A	chr2:55239038-55240752	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:55238547..55240641-chr2:55252176..55254092,2	MCF-7	breast:
2	chr2:55239250..55241157-chr2:55276968..55279206,2	K562	blood:
3	chr2:55224190..55226193-chr2:55238312..55240025,2	K562	blood:
4	chr2:55239258..55241140-chr2:55243082..55244742,2	K562	blood:

No data

Variant related genes	Relation type
RTN4	TF binding region
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11903052	0.99[AFR][1000 genomes]
rs17046576	0.99[AFR][1000 genomes]
rs6730793	1.00[AFR][1000 genomes]
rs73936520	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55203800-55258400	Weak transcription	Esophagus	oesophagus
2	chr2:55232200-55244800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:55233200-55240400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:55234800-55244800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:55234800-55246000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:55235600-55240600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:55236600-55241400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:55236800-55240800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:55236800-55243400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:55237000-55243600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:55237200-55241600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:55237400-55240800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:55237400-55242800	Enhancers	HSMMtube	muscle
14	chr2:55237600-55239800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:55237600-55239800	Weak transcription	Brain Angular Gyrus	brain
16	chr2:55237600-55240000	Enhancers	Dnd41	blood
17	chr2:55237600-55240400	Weak transcription	Fetal Brain Male	brain
18	chr2:55237600-55240800	Enhancers	Colon Smooth Muscle	Colon
19	chr2:55237600-55241000	Enhancers	NH-A	brain
20	chr2:55237600-55241200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:55237600-55241400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:55237600-55241400	Enhancers	Fetal Lung	lung
23	chr2:55237600-55241600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:55237600-55242000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:55237600-55243600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:55237600-55246000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:55237600-55247800	Weak transcription	Left Ventricle	heart
28	chr2:55237600-55249600	Weak transcription	Gastric	stomach
29	chr2:55237600-55250200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:55237600-55258600	Weak transcription	Ovary	ovary
31	chr2:55237600-55272600	Weak transcription	Fetal Stomach	stomach
32	chr2:55237800-55239800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr2:55237800-55239800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:55237800-55240400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr2:55237800-55240400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:55237800-55240600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:55237800-55241000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr2:55237800-55241000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr2:55237800-55241000	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:55237800-55241200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:55237800-55241200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr2:55237800-55241200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:55237800-55241200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:55237800-55241600	Enhancers	Duodenum Mucosa	Duodenum
45	chr2:55237800-55242200	Enhancers	NHLF	lung
46	chr2:55237800-55242800	Enhancers	Brain Substantia Nigra	brain
47	chr2:55237800-55242800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr2:55237800-55242800	Enhancers	Rectal Smooth Muscle	rectum
49	chr2:55237800-55243000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr2:55237800-55243400	Enhancers	Osteobl	bone

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