Variant report

Variant	rs17614989
Chromosome Location	chr2:172545208-172545209
allele	C/T
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	ZMIZ1	chr2:172545199-172545231	K562	blood:	n/a	n/a
2	REST	chr2:172543499-172545239	H1-neurons	neurons:	n/a	n/a
3	MAFK	chr2:172545013-172545217	K562	blood:	n/a	n/a
4	POLR2A	chr2:172543604-172545468	MCF10A-Er-Src	breast:	n/a	n/a
5	JUN	chr2:172543176-172545750	K562	blood:	n/a	chr2:172544518-172544528 chr2:172544518-172544527 chr2:172544518-172544528 chr2:172544517-172544529 chr2:172544518-172544528 chr2:172544518-172544528
6	MYC	chr2:172545117-172545277	K562	blood:	n/a	n/a
7	SREBP1	chr2:172543436-172545939	GM12878	blood:	n/a	chr2:172544372-172544381 chr2:172544372-172544381

No.	Distal block	Cell Line	Cell type
1	chr2:172543765..172545467-chr2:172749369..172751686,2	MCF-7	breast:
2	chr2:172287753..172291848-chr2:172543733..172546489,4	K562	blood:
3	chr2:172544464..172546143-chr2:172776960..172779046,3	K562	blood:

Variant related genes	Relation type
DYNC1I2	TF binding region
ENSG00000115827	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000128708	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10179020	0.90[ASN][1000 genomes]
rs10184770	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10185633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10191399	0.88[ASN][1000 genomes]
rs10196521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10201520	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1022358	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10432474	0.84[ASN][1000 genomes]
rs10930493	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930497	1.00[CEU][hapmap]
rs1105264	0.92[ASN][1000 genomes]
rs11678892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11887208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11903123	0.96[ASN][1000 genomes]
rs12464262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471160	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478189	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12479374	0.80[ASN][1000 genomes]
rs12617265	1.00[JPT][hapmap]
rs12619137	1.00[JPT][hapmap]
rs12692971	0.88[ASN][1000 genomes]
rs12692979	1.00[JPT][hapmap]
rs13012103	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1400816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1515812	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517678	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1543168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1554165	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1607253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16859721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17580984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850031	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1996425	0.92[ASN][1000 genomes]
rs2037164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056202	1.00[JPT][hapmap]
rs2176466	1.00[JPT][hapmap]
rs2292813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2357064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2357206	1.00[JPT][hapmap]
rs312917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3770444	0.96[ASN][1000 genomes]
rs3770453	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3770457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3821092	0.88[ASN][1000 genomes]
rs3821094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4507064	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs58565148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59414074	0.84[ASN][1000 genomes]
rs61588295	0.81[ASN][1000 genomes]
rs6433313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6433315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6433316	0.80[ASN][1000 genomes]
rs6711813	1.00[JPT][hapmap]
rs6736159	1.00[JPT][hapmap]
rs6753859	0.86[ASN][1000 genomes]
rs6760680	1.00[JPT][hapmap]
rs7574090	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7574711	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7580232	1.00[JPT][hapmap]
rs7583860	0.80[ASN][1000 genomes]
rs7588351	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925881	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9287948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs949548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs970948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997638	chr2:172442205-172560406	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172543600-172545400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:172543600-172545400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:172543600-172545400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:172543600-172545400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:172543600-172545400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:172543600-172545400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:172543600-172545400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr2:172543600-172545400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr2:172543600-172545600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:172543600-172545600	Active TSS	Colonic Mucosa	Colon
11	chr2:172543600-172545600	Active TSS	Fetal Brain Male	brain
12	chr2:172543600-172545600	Active TSS	Fetal Lung	lung
13	chr2:172543600-172545600	Active TSS	Hela-S3	cervix
14	chr2:172543600-172545600	Active TSS	HMEC	breast
15	chr2:172543600-172545800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:172543600-172545800	Active TSS	NHLF	lung
17	chr2:172543600-172546000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:172543600-172546000	Active TSS	HSMM	muscle
19	chr2:172543600-172546200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:172543600-172546200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:172543600-172546200	Active TSS	Muscle Satellite Cultured Cells	--
22	chr2:172543600-172546200	Active TSS	HSMMtube	muscle
23	chr2:172543600-172546400	Active TSS	Right Atrium	heart
24	chr2:172543800-172545400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr2:172543800-172545400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:172543800-172545400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr2:172543800-172545400	Active TSS	Brain Hippocampus Middle	brain
28	chr2:172543800-172545400	Active TSS	Fetal Brain Female	brain
29	chr2:172543800-172545400	Active TSS	Fetal Intestine Small	intestine
30	chr2:172543800-172545400	Active TSS	Fetal Kidney	kidney
31	chr2:172543800-172545400	Active TSS	Fetal Muscle Leg	muscle
32	chr2:172543800-172545400	Active TSS	Fetal Thymus	thymus
33	chr2:172543800-172545600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:172543800-172545600	Active TSS	Fetal Intestine Large	intestine
35	chr2:172543800-172545600	Active TSS	Fetal Muscle Trunk	muscle
36	chr2:172543800-172545600	Active TSS	K562	blood
37	chr2:172543800-172545800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr2:172543800-172545800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:172543800-172545800	Active TSS	NHDF-Ad	bronchial
40	chr2:172543800-172546000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:172543800-172546000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:172543800-172546000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:172543800-172546000	Active TSS	Psoas Muscle	Psoas
44	chr2:172543800-172546000	Active TSS	Stomach Smooth Muscle	stomach
45	chr2:172543800-172546200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:172543800-172546200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:172544000-172545400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr2:172544000-172545400	Active TSS	Fetal Stomach	stomach
49	chr2:172544000-172545400	Active TSS	GM12878-XiMat	blood
50	chr2:172544000-172545600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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