Variant report

Variant	rs2246448
Chromosome Location	chr2:178168716-178168717
allele	A/C
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:2)
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	RCOR1	chr2:178168688-178168973	K562	blood:	n/a	n/a
2	CTCF	chr2:178168700-178168850	HCFaa	heart:	n/a	n/a
3	CTCF	chr2:178168680-178168830	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:178168700-178168850	GM12864	blood:	n/a	n/a
5	CTCF	chr2:178168680-178168830	RPTEC	kidney:	n/a	n/a
6	CTCF	chr2:178168700-178168850	SAEC	small airway:	n/a	n/a
7	CTCF	chr2:178168683-178168949	K562	blood:	n/a	n/a
8	CTCF	chr2:178168700-178168850	GM12874	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178159535..178161054-chr2:178165959..178168725,2	K562	blood:
2	chr2:178162619..178165215-chr2:178168236..178169887,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271996	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10175252	0.89[ASN][1000 genomes]
rs10175660	0.89[ASN][1000 genomes]
rs10175662	0.89[ASN][1000 genomes]
rs10198518	0.89[ASN][1000 genomes]
rs10207495	0.89[ASN][1000 genomes]
rs10930782	0.82[ASN][1000 genomes]
rs10930783	0.89[ASN][1000 genomes]
rs12104688	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13002088	0.82[ASN][1000 genomes]
rs13392350	0.89[ASN][1000 genomes]
rs13426818	0.89[ASN][1000 genomes]
rs1453374	0.89[ASN][1000 genomes]
rs1453375	0.89[ASN][1000 genomes]
rs16865143	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865148	0.89[ASN][1000 genomes]
rs2364733	0.82[ASN][1000 genomes]
rs2602534	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602535	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706142	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55848656	0.89[ASN][1000 genomes]
rs56806189	0.89[ASN][1000 genomes]
rs57010642	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58583364	0.89[ASN][1000 genomes]
rs60703179	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720934	0.89[ASN][1000 genomes]
rs6720970	0.89[ASN][1000 genomes]
rs6724177	0.89[ASN][1000 genomes]
rs6735504	0.89[ASN][1000 genomes]
rs6744247	0.89[ASN][1000 genomes]
rs6746113	0.84[ASN][1000 genomes]
rs73035181	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73035188	0.89[ASN][1000 genomes]
rs73035190	0.89[ASN][1000 genomes]
rs73035193	0.89[ASN][1000 genomes]
rs73039071	0.84[ASN][1000 genomes]
rs73039075	0.84[ASN][1000 genomes]
rs7566319	0.84[ASN][1000 genomes]
rs7566974	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578962	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602451	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935948	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935949	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178146600-178180400	Weak transcription	Esophagus	oesophagus
2	chr2:178147800-178187000	Weak transcription	HSMM	muscle
3	chr2:178147800-178190800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:178151400-178179400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:178152000-178171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:178152800-178178200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:178155600-178174000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:178155800-178185200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:178156400-178172000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:178157800-178171600	Weak transcription	Primary T cells from cord blood	blood
11	chr2:178160400-178187200	Weak transcription	Brain Angular Gyrus	brain
12	chr2:178160800-178186000	Weak transcription	Adipose Nuclei	Adipose
13	chr2:178160800-178196200	Weak transcription	Ovary	ovary
14	chr2:178161200-178171200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:178163400-178171400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:178163600-178177800	Weak transcription	HepG2	liver
17	chr2:178163600-178178200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:178165000-178174000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:178165200-178173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:178165800-178187200	Weak transcription	Spleen	Spleen
21	chr2:178166600-178187000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:178166800-178169000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:178167600-178174000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:178167600-178174000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:178167600-178187000	Weak transcription	Left Ventricle	heart
26	chr2:178167800-178174000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:178167800-178175800	Weak transcription	Primary B cells from cord blood	blood
28	chr2:178168000-178169000	Weak transcription	Psoas Muscle	Psoas
29	chr2:178168600-178178400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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