Variant report

Variant	rs10929312
Chromosome Location	chr2:234766741-234766742
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	MAX	chr2:234766013-234766907	A549	lung:	n/a	chr2:234766652-234766661
2	CTCF	chr2:234766660-234766778	Spleen_OC	spleen:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
3	SIX5	chr2:234765983-234766949	A549	lung:	n/a	n/a
4	ATF3	chr2:234766009-234766896	A549	lung:	n/a	n/a
5	SMC3	chr2:234766274-234766861	K562	blood:	n/a	chr2:234766286-234766300
6	CTCF	chr2:234766497-234766743	Fibrobl	skin:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
7	EP300	chr2:234766007-234767049	A549	lung:	n/a	chr2:234766649-234766663
8	FOXA2	chr2:234766277-234766836	A549	lung:	n/a	n/a
9	RCOR1	chr2:234766166-234766832	K562	blood:	n/a	n/a
10	CTCF	chr2:234766616-234766773	Pancreas_OC	pancreas:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
11	TBL1XR1	chr2:234766051-234766780	K562	blood:	n/a	n/a
12	BCL3	chr2:234766051-234766829	A549	lung:	n/a	n/a
13	CTCF	chr2:234766640-234766790	HVMF	connective:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
14	USF1	chr2:234766106-234766864	A549	lung:	n/a	n/a
15	CTCF	chr2:234766646-234766765	LNCaP	prostate:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
16	CTCF	chr2:234766566-234766743	Gliobla	brain:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
17	BHLHE40	chr2:234766288-234766812	K562	blood:	n/a	n/a
18	CTCF	chr2:234766548-234766743	GM19239	blood:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
19	RAD21	chr2:234766577-234766803	SK-N-SH_RA	brain:	n/a	chr2:234766696-234766715
20	CTCF	chr2:234766534-234766809	K562	blood:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
21	CEBPB	chr2:234766118-234766866	K562	blood:	n/a	chr2:234766470-234766483
22	RAD21	chr2:234766135-234766898	A549	lung:	n/a	chr2:234766696-234766715 chr2:234766284-234766296 chr2:234766282-234766301
23	ELF1	chr2:234766166-234766833	A549	lung:	n/a	n/a
24	CTCF	chr2:234766620-234766770	AG09309	skin:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
25	RAD21	chr2:234766509-234766822	K562	blood:	n/a	chr2:234766696-234766715
26	BCL3	chr2:234765901-234766881	A549	lung:	n/a	n/a
27	CTCF	chr2:234766620-234766770	GM12871	blood:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
28	CEBPB	chr2:234766144-234766844	A549	lung:	n/a	chr2:234766470-234766483
29	CTCF	chr2:234766600-234766750	HRPEpiC	eye:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
30	CTCF	chr2:234766640-234766790	GM12864	blood:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
31	SIN3AK20	chr2:234766221-234766818	A549	lung:	n/a	n/a
32	CTCF	chr2:234766549-234766806	T-47D	breast:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
33	TEAD4	chr2:234766128-234766845	K562	blood:	n/a	n/a
34	MYC	chr2:234766265-234766797	K562	blood:	n/a	chr2:234766652-234766661
35	TBL1XR1	chr2:234766172-234766764	K562	blood:	n/a	n/a
36	CTCF	chr2:234766572-234766775	A549	lung:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
37	TCF12	chr2:234766056-234766821	A549	lung:	n/a	n/a
38	CTCF	chr2:234766640-234766790	K562	blood:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
39	CTCF	chr2:234766508-234766765	GM13977	blood:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
40	CTCF	chr2:234766070-234766867	SK-N-SH	brain:	n/a	chr2:234766286-234766299 chr2:234766285-234766301 chr2:234766279-234766300 chr2:234766695-234766713 chr2:234766697-234766718 chr2:234766284-234766302
41	CTCF	chr2:234766600-234766750	K562	blood:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
42	ZNF143	chr2:234766129-234766803	K562	blood:	n/a	n/a
43	FOSL2	chr2:234765934-234766904	A549	lung:	n/a	n/a
44	RAD21	chr2:234766534-234766789	HepG2	liver:	n/a	chr2:234766696-234766715
45	RAD21	chr2:234766040-234766839	H1-hESC	embryonic stem cell:	n/a	chr2:234766696-234766715 chr2:234766284-234766296 chr2:234766282-234766301
46	FOXA2	chr2:234766213-234766822	A549	lung:	n/a	n/a
47	CTCF	chr2:234766640-234766790	HCM	heart:	n/a	chr2:234766695-234766713 chr2:234766697-234766718
48	EP300	chr2:234765983-234766979	A549	lung:	n/a	chr2:234766649-234766663
49	MAZ	chr2:234766121-234766836	K562	blood:	n/a	chr2:234766652-234766661
50	CTCF	chr2:234766640-234766790	NHEK	skin:	n/a	chr2:234766695-234766713 chr2:234766697-234766718

No.	Distal block	Cell Line	Cell type
1	chr2:234765045..234768392-chr2:234769046..234775688,6	K562	blood:
2	chr2:234766235..234766834-chr2:236025239..236025780,2	K562	blood:
3	chr2:234766402..234767150-chr2:236015497..236016002,2	K562	blood:
4	chr2:234764614..234767781-chr2:234770318..234773555,4	MCF-7	breast:
5	chr2:234763499..234765002-chr2:234766647..234768306,2	MCF-7	breast:
6	chr2:234766693..234769626-chr2:234773837..234776124,2	MCF-7	breast:

Variant related genes	Relation type
HJURP	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1003540	0.83[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs10166942	0.83[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs10170399	0.84[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs10187654	0.93[ASN][1000 genomes]
rs10929309	0.96[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10929314	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11563063	0.84[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs11563066	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892538	0.84[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12997802	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016127	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13016553	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1392606	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965629	0.84[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs1985366	0.90[ASN][1000 genomes]
rs2159200	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286430	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2302155	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2362290	0.83[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs3732215	0.93[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4233636	0.81[ASN][1000 genomes]
rs4663983	0.91[ASN][1000 genomes]
rs4663986	0.81[ASN][1000 genomes]
rs6431648	0.82[ASN][1000 genomes]
rs6709005	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs6738979	0.84[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs6760630	0.93[ASN][1000 genomes]
rs737636	0.82[ASN][1000 genomes]
rs7567475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604471	0.80[ASN][1000 genomes]
rs887061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917432	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs917433	0.93[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs917434	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs968402	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs990418	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234763600-234776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:234763800-234774600	Weak transcription	Placenta	Placenta
3	chr2:234763800-234774800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:234763800-234775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:234763800-234775400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:234763800-234776600	Weak transcription	Right Ventricle	heart
7	chr2:234764000-234774400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:234764000-234775200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:234764000-234776400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:234764000-234776600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:234764000-234776600	Weak transcription	HUVEC	blood vessel
12	chr2:234764200-234770800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:234764200-234771000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:234764200-234773000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:234764200-234774200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:234764200-234774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:234764200-234774600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:234764200-234774800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:234764200-234774800	Weak transcription	Osteobl	bone
20	chr2:234764200-234775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:234764200-234775200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:234764200-234776600	Weak transcription	Primary B cells from cord blood	blood
23	chr2:234764200-234776600	Weak transcription	Primary T cells from cord blood	blood
24	chr2:234764200-234776600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:234764200-234776600	Weak transcription	HMEC	breast
26	chr2:234764200-234776600	Weak transcription	NH-A	brain
27	chr2:234764200-234776600	Weak transcription	NHDF-Ad	bronchial
28	chr2:234764200-234776600	Weak transcription	NHEK	skin
29	chr2:234764200-234776800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:234764400-234774400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:234764400-234774400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:234764400-234774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:234764400-234775000	Weak transcription	NHLF	lung
34	chr2:234764400-234776400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:234764400-234776600	Weak transcription	HSMM	muscle
36	chr2:234766000-234766800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr2:234766000-234766800	Flanking Active TSS	A549	lung
38	chr2:234766000-234767000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:234766000-234767400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:234766200-234766800	Enhancers	Fetal Intestine Large	intestine
41	chr2:234766400-234766800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:234766400-234766800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr2:234766400-234766800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:234766400-234766800	Enhancers	GM12878-XiMat	blood
45	chr2:234766600-234766800	Enhancers	K562	blood

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