Variant report

Variant	rs908735
Chromosome Location	chr2:181923885-181923886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:181922868-181923923	SK-N-SH	brain:	n/a	chr2:181923536-181923555 chr2:181923546-181923553
2	MAFK	chr2:181923206-181923993	K562	blood:	n/a	chr2:181923824-181923839
3	MAFK	chr2:181923400-181924018	HepG2	liver:	n/a	chr2:181923824-181923839
4	MAFK	chr2:181923499-181924007	IMR90	lung:	n/a	chr2:181923824-181923839
5	MAFK	chr2:181923232-181924015	HepG2	liver:	n/a	chr2:181923824-181923839
6	MAFF	chr2:181923220-181924014	K562	blood:	n/a	chr2:181923822-181923840
7	RAD21	chr2:181923133-181923930	HCT-116	colon:	n/a	chr2:181923536-181923555 chr2:181923546-181923553
8	CTCF	chr2:181922978-181923938	A549	lung:	n/a	chr2:181923533-181923554 chr2:181923543-181923551 chr2:181923539-181923555 chr2:181923538-181923556
9	CTCF	chr2:181922962-181923930	SK-N-SH	brain:	n/a	chr2:181923533-181923554 chr2:181923543-181923551 chr2:181923539-181923555 chr2:181923538-181923556
10	MAFF	chr2:181923501-181924005	HepG2	liver:	n/a	chr2:181923822-181923840
11	MAFK	chr2:181923431-181923985	Hela-S3	cervix:	n/a	chr2:181923824-181923839
12	MAFK	chr2:181923420-181924020	H1-hESC	embryonic stem cell:	n/a	chr2:181923824-181923839

No.	Distal block	Cell Line	Cell type
1	chr2:181923348..181925350-chr2:181926874..181929406,2	K562	blood:
2	chr2:180989858..180990890-chr2:181922991..181924050,3	MCF-7	breast:
3	chr2:181597905..181598799-chr2:181923240..181923972,2	MCF-7	breast:
4	chr2:180989111..180989829-chr2:181923203..181924094,3	K562	blood:
5	chr2:181920376..181922076-chr2:181923653..181925490,2	K562	blood:
6	chr2:181105199..181105857-chr2:181922864..181924083,3	MCF-7	breast:

Variant related genes	Relation type
UBE2E3	TF binding region
ENSG00000170035	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10497575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13425173	0.82[CHD][hapmap]
rs16867379	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867382	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2292855	0.80[LWK][hapmap]
rs2292856	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2368188	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4572560	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4667049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57612208	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73025610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73025614	1.00[EUR][1000 genomes]
rs73025615	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73037059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73037069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73037078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73037079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73037093	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73037095	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73037098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73039019	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73039024	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73039027	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73039030	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73039098	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73039101	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73041008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73041014	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73041021	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs873255	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs997716	0.89[YRI][hapmap]

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181902200-181926400	Weak transcription	HSMM	muscle
2	chr2:181902800-181934200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:181903800-181934600	Weak transcription	NH-A	brain
4	chr2:181904400-181934000	Weak transcription	NHDF-Ad	bronchial
5	chr2:181904400-181945400	Weak transcription	Left Ventricle	heart
6	chr2:181911000-181928400	Weak transcription	Fetal Lung	lung
7	chr2:181911800-181940400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:181912400-181941400	Weak transcription	Esophagus	oesophagus
9	chr2:181912600-181928400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:181913800-181938400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:181915800-181928200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:181917200-181928600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:181917200-181929000	Weak transcription	Primary B cells from cord blood	blood
14	chr2:181917200-181931000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:181917200-181934200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:181917400-181928200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:181917600-181928400	Weak transcription	K562	blood
18	chr2:181917600-181934400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:181917600-181936800	Weak transcription	NHLF	lung
20	chr2:181917600-181937600	Weak transcription	Fetal Thymus	thymus
21	chr2:181917800-181926400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:181917800-181930800	Weak transcription	GM12878-XiMat	blood
23	chr2:181917800-181934200	Weak transcription	Psoas Muscle	Psoas
24	chr2:181917800-181935600	Weak transcription	Liver	Liver
25	chr2:181918000-181938200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:181919200-181929600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:181919600-181927400	Weak transcription	Osteobl	bone
28	chr2:181919600-181934400	Weak transcription	HUVEC	blood vessel
29	chr2:181919800-181929800	Weak transcription	Fetal Heart	heart
30	chr2:181919800-181930000	Weak transcription	Adipose Nuclei	Adipose
31	chr2:181919800-181931000	Weak transcription	Stomach Mucosa	stomach
32	chr2:181919800-181934000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:181919800-181934400	Weak transcription	NHEK	skin
34	chr2:181920000-181928400	Weak transcription	HMEC	breast
35	chr2:181920000-181934400	Weak transcription	A549	lung
36	chr2:181920200-181926200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:181920200-181926400	Weak transcription	Dnd41	blood
38	chr2:181920200-181934200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:181920400-181934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:181920800-181949800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:181921600-181927200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:181921600-181931000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:181921600-181934200	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:181921600-181934400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:181921800-181927200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:181921800-181928400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:181921800-181931400	Weak transcription	Fetal Kidney	kidney
48	chr2:181922000-181942400	Weak transcription	Fetal Intestine Large	intestine
49	chr2:181922200-181937000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:181922400-181925400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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