Variant report

Variant	rs7141203
Chromosome Location	chr14:68281606-68281607
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	EP300	chr14:68281587-68281665	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68268943..68273622-chr14:68274476..68281746,8	K562	blood:

Variant related genes	Relation type
RAD51B	TF binding region

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10132828	1.00[CEU][hapmap]
rs10133485	1.00[CEU][hapmap]
rs10133652	1.00[CEU][hapmap]
rs10134988	0.96[ASN][1000 genomes]
rs10135316	1.00[CEU][hapmap]
rs10135925	1.00[CEU][hapmap]
rs10137457	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10137712	1.00[CEU][hapmap]
rs10143219	1.00[CEU][hapmap]
rs10143895	1.00[CEU][hapmap]
rs10144128	1.00[CEU][hapmap]
rs10145884	1.00[CEU][hapmap]
rs10146719	1.00[CEU][hapmap]
rs10146766	1.00[CEU][hapmap]
rs10146831	1.00[CEU][hapmap]
rs10147569	1.00[CEU][hapmap]
rs10148893	1.00[CEU][hapmap]
rs10151123	1.00[CEU][hapmap]
rs10151317	1.00[CEU][hapmap]
rs10450891	1.00[CEU][hapmap]
rs11158710	1.00[CEU][hapmap]
rs1118397	1.00[CEU][hapmap]
rs11625742	1.00[CEU][hapmap]
rs17104663	0.92[ASN][1000 genomes]
rs17104681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104774	1.00[CEU][hapmap]
rs17104783	1.00[CEU][hapmap]
rs17104786	1.00[CEU][hapmap]
rs17104793	1.00[CEU][hapmap]
rs17104796	1.00[CEU][hapmap]
rs17104799	1.00[CEU][hapmap]
rs17104823	1.00[CEU][hapmap]
rs17104824	1.00[CEU][hapmap]
rs17104827	1.00[CEU][hapmap]
rs17104829	1.00[CEU][hapmap]
rs17104862	1.00[CEU][hapmap]
rs17104863	1.00[CEU][hapmap]
rs17783202	1.00[CEU][hapmap]
rs1812250	0.82[EUR][1000 genomes]
rs1950766	1.00[CEU][hapmap]
rs1955469	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2180537	1.00[CEU][hapmap]
rs28396172	0.96[ASN][1000 genomes]
rs28473357	0.96[ASN][1000 genomes]
rs28697984	0.85[ASN][1000 genomes]
rs28751961	0.96[ASN][1000 genomes]
rs28833913	0.85[ASN][1000 genomes]
rs28835585	0.92[ASN][1000 genomes]
rs28847917	0.92[ASN][1000 genomes]
rs34663731	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34768780	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34787467	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34935709	1.00[EUR][1000 genomes]
rs35588855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35608268	0.82[EUR][1000 genomes]
rs35927243	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742882	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3742883	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs3742884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3742885	1.00[CEU][hapmap]
rs4899228	0.92[ASN][1000 genomes]
rs4899229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4902523	1.00[CEU][hapmap]
rs4902525	0.96[ASN][1000 genomes]
rs4902529	0.92[ASN][1000 genomes]
rs4902530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4902531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4902532	0.83[ASN][1000 genomes]
rs58159602	0.92[ASN][1000 genomes]
rs6573802	1.00[CEU][hapmap]
rs7143377	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147296	1.00[CEU][hapmap]
rs7149122	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149351	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149356	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149360	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149460	1.00[CEU][hapmap]
rs7149796	1.00[CEU][hapmap]
rs7150467	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7152445	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152727	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154725	1.00[CEU][hapmap]
rs7156492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7157550	1.00[CEU][hapmap]
rs7157720	1.00[CEU][hapmap]
rs7159786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742867	1.00[JPT][hapmap]
rs8006175	1.00[CEU][hapmap]
rs8007989	1.00[CEU][hapmap]
rs8008791	1.00[CEU][hapmap]
rs8012665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8015520	0.96[ASN][1000 genomes]
rs8015595	1.00[CEU][hapmap]
rs8015741	1.00[CEU][hapmap]
rs8016246	0.96[ASN][1000 genomes]
rs8017718	0.92[ASN][1000 genomes]
rs8017930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8018883	0.92[ASN][1000 genomes]
rs8019420	0.92[ASN][1000 genomes]
rs8020512	1.00[CEU][hapmap]
rs932474	0.82[EUR][1000 genomes]
rs932475	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs957930	1.00[CEU][hapmap]
rs9652362	1.00[CEU][hapmap]
rs9652363	1.00[CEU][hapmap]
rs9652364	1.00[CEU][hapmap]
rs9672111	1.00[CEU][hapmap]
rs9788517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9796374	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68265800-68282200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:68271400-68282000	Weak transcription	Stomach Mucosa	stomach
4	chr14:68271800-68282200	Weak transcription	K562	blood
5	chr14:68272400-68282200	Weak transcription	Small Intestine	intestine
6	chr14:68274600-68282200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68274600-68282200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:68274600-68282400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:68275000-68282600	Weak transcription	Aorta	Aorta
10	chr14:68275400-68282200	Weak transcription	Thymus	Thymus
11	chr14:68275400-68282400	Weak transcription	Gastric	stomach
12	chr14:68275600-68282200	Weak transcription	Psoas Muscle	Psoas
13	chr14:68275600-68282400	Weak transcription	Esophagus	oesophagus
14	chr14:68276000-68281800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:68276000-68282000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:68276000-68282000	Weak transcription	Spleen	Spleen
17	chr14:68276000-68282200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:68277000-68282400	Weak transcription	Right Ventricle	heart
19	chr14:68277600-68282000	Weak transcription	Fetal Stomach	stomach
20	chr14:68277600-68282000	Weak transcription	HSMMtube	muscle
21	chr14:68277800-68282200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:68277800-68282200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:68277800-68282200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:68277800-68282400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:68277800-68282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:68277800-68282400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr14:68277800-68282400	Weak transcription	Left Ventricle	heart
28	chr14:68277800-68282400	Weak transcription	Lung	lung
29	chr14:68277800-68282400	Weak transcription	Ovary	ovary
30	chr14:68278000-68281800	Weak transcription	Fetal Brain Male	brain
31	chr14:68278000-68282000	Weak transcription	Brain Substantia Nigra	brain
32	chr14:68278000-68282200	Weak transcription	Colonic Mucosa	Colon
33	chr14:68278200-68282000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:68279000-68282400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr14:68279200-68282000	Strong transcription	Fetal Muscle Leg	muscle
36	chr14:68280200-68281800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:68280200-68282200	Weak transcription	Fetal Thymus	thymus
38	chr14:68280400-68282200	Enhancers	Primary B cells from cord blood	blood
39	chr14:68280600-68281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:68280600-68281800	Weak transcription	Brain Anterior Caudate	brain
41	chr14:68280600-68282000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr14:68280800-68281800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:68280800-68282000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:68280800-68282000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr14:68280800-68282000	Weak transcription	Placenta	Placenta
46	chr14:68280800-68282400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:68281000-68281800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:68281000-68281800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:68281000-68282000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr14:68281000-68282000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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