Variant report

Variant	rs73017249
Chromosome Location	chr2:172018995-172018996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:172018797-172019011	HepG2	liver:	n/a	n/a
2	RUNX3	chr2:172018958-172019367	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172013226..172020125-chr2:172287594..172292844,18	MCF-7	breast:
2	chr2:172018366..172020201-chr2:172023352..172025377,2	MCF-7	breast:
3	chr2:172015340..172019166-chr2:172288878..172291883,5	K562	blood:
4	chr2:172013756..172019540-chr2:172285624..172293532,16	K562	blood:
5	chr2:172017458..172020071-chr2:172021150..172023264,2	MCF-7	breast:
6	chr2:171909667..171912073-chr2:172017809..172019890,2	K562	blood:

No data

Variant related genes	Relation type
TLK1	TF binding region
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs13389859	0.84[EUR][1000 genomes]
rs16823191	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16859087	0.85[AFR][1000 genomes]
rs16859121	0.87[AFR][1000 genomes]
rs16859137	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16859167	0.84[EUR][1000 genomes]
rs16859176	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16859177	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1863679	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2356600	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2356609	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2883940	0.86[AFR][1000 genomes]
rs55644524	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55885449	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55939429	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55995602	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55997598	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56004444	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56134465	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56155163	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56155601	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56191582	0.85[AFR][1000 genomes]
rs56267332	0.80[EUR][1000 genomes]
rs56308745	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56382502	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56934523	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57173242	0.81[AFR][1000 genomes]
rs57733560	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58028937	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58307585	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs58685348	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59841744	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60396936	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60730419	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61105084	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6711423	0.96[EUR][1000 genomes]
rs6736045	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6746133	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73013435	0.84[EUR][1000 genomes]
rs73013436	0.84[EUR][1000 genomes]
rs73013439	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73013453	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73013465	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73017262	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73017268	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73017286	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73027271	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73029214	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73976125	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73976285	0.84[EUR][1000 genomes]
rs7580756	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7591214	0.84[EUR][1000 genomes]
rs7604392	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9752051	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172017800-172019400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:172018000-172019600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:172018000-172027000	Weak transcription	Ovary	ovary
4	chr2:172018200-172019000	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr2:172018200-172019000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:172018200-172019800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:172018200-172020800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:172018200-172020800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:172018200-172021800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:172018200-172022600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:172018200-172022600	Weak transcription	Placenta	Placenta
12	chr2:172018200-172029800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:172018400-172019000	Enhancers	Thymus	Thymus
14	chr2:172018400-172019200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:172018400-172019400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:172018400-172019800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:172018400-172019800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr2:172018400-172020600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:172018400-172020800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:172018400-172021000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:172018400-172022600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:172018600-172019000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:172018600-172019000	Enhancers	Fetal Muscle Trunk	muscle
24	chr2:172018600-172019200	Enhancers	Liver	Liver
25	chr2:172018600-172019200	Enhancers	Duodenum Mucosa	Duodenum
26	chr2:172018600-172019200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:172018600-172019600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:172018600-172019600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:172018600-172019600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:172018600-172019600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:172018600-172019600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:172018600-172019800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:172018600-172019800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:172018600-172019800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:172018600-172019800	Enhancers	Dnd41	blood
36	chr2:172018600-172020400	Enhancers	Primary B cells from cord blood	blood
37	chr2:172018600-172020600	Enhancers	Fetal Thymus	thymus
38	chr2:172018600-172020800	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:172018600-172021000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:172018600-172021200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:172018600-172021400	Enhancers	Primary T cells from cord blood	blood
42	chr2:172018600-172022600	Weak transcription	Fetal Heart	heart
43	chr2:172018800-172019000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:172018800-172019000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:172018800-172019000	Enhancers	Colon Smooth Muscle	Colon
46	chr2:172018800-172019200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:172018800-172019200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:172018800-172019200	Enhancers	GM12878-XiMat	blood
49	chr2:172018800-172019600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:172018800-172019600	Weak transcription	HepG2	liver

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