Variant report

Variant	rs3769203
Chromosome Location	chr2:173955062-173955063
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	POLR2A	chr2:173954871-173955942	PANC-1	pancreas:	n/a	n/a
2	CEBPB	chr2:173954988-173955521	IMR90	lung:	n/a	n/a
3	BHLHE40	chr2:173955042-173956384	K562	blood:	n/a	n/a
4	MAFK	chr2:173955022-173955992	IMR90	lung:	n/a	chr2:173955793-173955808
5	CTCF	chr2:173954921-173957167	A549	lung:	n/a	chr2:173956633-173956641 chr2:173956244-173956262
6	EP300	chr2:173954746-173955155	GM12878	blood:	n/a	n/a
7	EP300	chr2:173954728-173956491	K562	blood:	n/a	chr2:173955586-173955600 chr2:173955703-173955717
8	TBL1XR1	chr2:173955046-173956513	K562	blood:	n/a	n/a
9	MAX	chr2:173954951-173955680	A549	lung:	n/a	n/a
10	MXI1	chr2:173954971-173955696	IMR90	lung:	n/a	chr2:173955020-173955035
11	TCF12	chr2:173955049-173955733	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr2:173954987-173956294	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173954282..173955862-chr2:174218772..174221164,2	K562	blood:

Variant related genes	Relation type
ENSG00000091436	TF binding region
ENSG00000236391	Chromatin interaction
ENSG00000144354	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12986917	0.87[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12987496	0.85[CEU][hapmap];0.90[CHB][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12989116	0.90[CHB][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12997078	0.81[ASN][1000 genomes]
rs13004212	0.90[ASN][1000 genomes]
rs13017210	0.85[ASN][1000 genomes]
rs13020796	0.82[ASN][1000 genomes]
rs13022800	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13029949	0.91[CEU][hapmap];0.89[CHB][hapmap]
rs13032010	0.90[CHB][hapmap]
rs16861272	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16861278	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs17302977	0.87[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17761169	0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs2278883	0.81[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs2289397	0.81[CHB][hapmap]
rs2289399	0.90[CHB][hapmap]
rs34014656	0.88[ASN][1000 genomes]
rs34472765	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34658268	0.84[ASN][1000 genomes]
rs34681024	0.90[ASN][1000 genomes]
rs34702663	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35250703	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36102078	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36103648	0.81[ASN][1000 genomes]
rs3754741	0.90[CHB][hapmap]
rs3754743	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[GIH][hapmap];0.92[TSI][hapmap]
rs3754744	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[TSI][hapmap]
rs3769167	0.90[CHB][hapmap]
rs3769187	0.83[CEU][hapmap];0.90[CHB][hapmap]
rs3769192	0.83[CEU][hapmap];0.90[CHB][hapmap]
rs3769194	0.83[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs3769199	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4972533	0.90[CHB][hapmap]
rs56193548	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56342397	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6433395	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6741675	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67422536	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67683956	0.84[ASN][1000 genomes]
rs72905046	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72905080	0.83[EUR][1000 genomes];0.90[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173941600-173955200	Weak transcription	Lung	lung
2	chr2:173941600-173955200	Weak transcription	Pancreas	Pancrea
3	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
4	chr2:173941800-173955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:173941800-173955200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:173942000-173955200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:173942000-173955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:173942000-173956000	Weak transcription	Fetal Thymus	thymus
9	chr2:173942600-173956400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:173942800-173955800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:173942800-173964600	Weak transcription	HUVEC	blood vessel
12	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
14	chr2:173943400-173955200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:173943400-173955200	Weak transcription	Dnd41	blood
16	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
17	chr2:173943800-173956000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:173947000-173955200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:173947600-173955200	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:173947600-173955200	Weak transcription	Gastric	stomach
22	chr2:173947600-173955200	Weak transcription	Right Atrium	heart
23	chr2:173948800-173955400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:173951200-173955200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:173951400-173957400	Weak transcription	Small Intestine	intestine
26	chr2:173951400-173962000	Weak transcription	Brain Substantia Nigra	brain
27	chr2:173951600-173955200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:173951600-173955200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:173951600-173955200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:173951600-173955200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:173952000-173955200	Weak transcription	Aorta	Aorta
32	chr2:173952000-173957600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:173952000-173973400	Weak transcription	Hela-S3	cervix
34	chr2:173952200-173955200	Weak transcription	Adipose Nuclei	Adipose
35	chr2:173952200-173955200	Weak transcription	Esophagus	oesophagus
36	chr2:173952200-173955200	Weak transcription	Ovary	ovary
37	chr2:173952200-173955200	Enhancers	Stomach Smooth Muscle	stomach
38	chr2:173952200-173955200	Weak transcription	HSMM	muscle
39	chr2:173952200-173955800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:173952200-173955800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:173952200-173971400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:173952800-173955200	Weak transcription	Right Ventricle	heart
43	chr2:173952800-173958800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:173953000-173955200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:173953000-173968000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:173953200-173955200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:173953400-173955200	Weak transcription	NHDF-Ad	bronchial
48	chr2:173953400-173959200	Weak transcription	HepG2	liver
49	chr2:173953600-173955400	Weak transcription	GM12878-XiMat	blood
50	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood

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