Variant report

Variant	rs10200192
Chromosome Location	chr2:113517944-113517945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:113517811-113518032	GM12878	blood:	n/a	n/a
2	ESRRA	chr2:113517483-113518283	GM12878	blood:	n/a	n/a
3	STAT3	chr2:113517637-113517994	MCF10A-Er-Src	breast:	n/a	n/a
4	RCOR1	chr2:113517836-113518009	K562	blood:	n/a	n/a
5	NFYB	chr2:113517883-113518188	GM12878	blood:	n/a	n/a
6	RCOR1	chr2:113517907-113517944	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113511556..113515494-chr2:113516132..113520858,6	K562	blood:
2	chr2:113509898..113511431-chr2:113516131..113518269,2	K562	blood:
3	chr2:113515687..113518345-chr2:113566217..113568587,2	K562	blood:
4	chr2:113516206..113519477-chr2:113521506..113524315,3	MCF-7	breast:
5	chr2:113507496..113509018-chr2:113517619..113519307,2	MCF-7	breast:
6	chr2:113516316..113519166-chr2:113519525..113523877,3	K562	blood:
7	chr2:113497949..113500528-chr2:113517759..113519834,2	MCF-7	breast:
8	chr2:113515605..113519166-chr2:113520003..113523974,6	K562	blood:

No data

Variant related genes	Relation type
CKAP2L	TF binding region
ENSG00000169607	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10165537	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10187872	0.86[CHB][hapmap];0.80[EUR][1000 genomes]
rs10193063	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203064	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10496444	0.81[CHB][hapmap]
rs10496445	0.82[CHB][hapmap]
rs11123148	0.80[EUR][1000 genomes]
rs11123149	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12463996	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12475027	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12478842	0.82[CHB][hapmap]
rs12622683	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12711741	0.82[CHB][hapmap]
rs13008855	1.00[YRI][hapmap]
rs13009294	0.82[CHB][hapmap]
rs13013602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13015273	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13016817	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13019249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13026263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027814	0.82[CHB][hapmap]
rs13036237	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13382217	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13429613	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1609682	0.81[CHB][hapmap]
rs17649681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2071373	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs2138606	0.81[CHB][hapmap]
rs2862226	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3783521	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs3783525	0.81[CHB][hapmap]
rs3783526	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs3783546	0.82[CHB][hapmap]
rs3783550	0.81[CHB][hapmap]
rs3811040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3827761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4261731	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4848298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848301	0.81[CHB][hapmap]
rs4848302	0.82[CHB][hapmap]
rs4849115	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs4849118	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55762606	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58694576	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6542095	0.81[CHB][hapmap]
rs6706663	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6712572	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721044	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6721292	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6753803	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7577241	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7591704	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7594852	0.97[EUR][1000 genomes]
rs7599690	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607470	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs908551	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
6	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:113506400-113520200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:113507200-113520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:113507400-113519200	Strong transcription	K562	blood
13	chr2:113507400-113520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:113507600-113518200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:113507800-113520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:113508000-113520000	Weak transcription	Brain Germinal Matrix	brain
17	chr2:113508000-113521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:113508200-113519600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:113508200-113519800	Strong transcription	Fetal Thymus	thymus
20	chr2:113508200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:113508200-113521200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:113508400-113520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:113508800-113519200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:113509600-113518600	Weak transcription	Stomach Mucosa	stomach
25	chr2:113509800-113521200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:113510200-113518400	Strong transcription	NHEK	skin
27	chr2:113510200-113519400	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:113510200-113521200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:113510400-113518000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:113510600-113520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:113510800-113518200	Strong transcription	HMEC	breast
32	chr2:113511400-113518400	Strong transcription	HUVEC	blood vessel
33	chr2:113511400-113519800	Strong transcription	A549	lung
34	chr2:113511800-113519200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:113512600-113520800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:113512600-113521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:113512800-113520600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:113512800-113521200	Weak transcription	Primary B cells from cord blood	blood
39	chr2:113512800-113521200	Weak transcription	Placenta	Placenta
40	chr2:113513000-113519400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:113513600-113518000	Strong transcription	HSMM	muscle
42	chr2:113513600-113518200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:113513800-113519600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:113514000-113521000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:113514200-113519800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:113514200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:113514400-113519600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:113514400-113519600	Weak transcription	NHDF-Ad	bronchial
49	chr2:113514400-113520400	Weak transcription	Fetal Brain Female	brain
50	chr2:113514400-113520600	Weak transcription	Fetal Lung	lung

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