Variant report

Variant	rs67211112
Chromosome Location	chr3:113232176-113232177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:113229615..113239929-chr3:113247196..113257849,45	MCF-7	breast:
2	chr3:112709917..112711539-chr3:113232036..113234156,2	K562	blood:

Variant related genes	Relation type
ENSG00000272844	Chromatin interaction
ENSG00000163607	Chromatin interaction
ENSG00000072858	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10511326	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11537650	0.81[AMR][1000 genomes]
rs13066742	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13067967	0.93[ASN][1000 genomes]
rs13082603	0.81[AMR][1000 genomes]
rs13087452	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13092925	0.81[AMR][1000 genomes]
rs13098166	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13325046	0.84[EUR][1000 genomes]
rs1386336	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1463643	0.81[AMR][1000 genomes]
rs1486894	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1486897	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1552432	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861158	0.90[ASN][1000 genomes]
rs1872747	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2087129	0.83[EUR][1000 genomes]
rs2087130	0.81[AMR][1000 genomes]
rs2129434	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2399477	0.81[AMR][1000 genomes]
rs2399479	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2399480	0.81[AMR][1000 genomes]
rs28536176	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28710051	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34286076	0.93[ASN][1000 genomes]
rs34844841	0.93[ASN][1000 genomes]
rs35274817	0.93[ASN][1000 genomes]
rs35278902	0.95[ASN][1000 genomes]
rs35860985	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36054418	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3732803	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4396864	0.81[AMR][1000 genomes]
rs4425226	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4484165	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60634072	0.81[AMR][1000 genomes]
rs6438149	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6438156	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6438157	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6438158	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6438159	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6438161	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6766615	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6768648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768979	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6769516	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6773497	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6778800	0.83[EUR][1000 genomes]
rs6783965	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6786974	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6787026	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6798938	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6799610	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6808394	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs722392	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7610638	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7613546	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618226	0.81[AMR][1000 genomes]
rs7622740	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7628945	0.81[AMR][1000 genomes]
rs7631082	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7631138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7631335	0.81[AMR][1000 genomes]
rs7636128	0.83[EUR][1000 genomes]
rs869342	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs869343	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9814395	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9825827	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9835848	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9836396	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9839921	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9844447	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9846539	0.81[AMR][1000 genomes]
rs9851378	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9860549	0.83[EUR][1000 genomes]
rs9869119	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9869318	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9872168	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9875025	0.83[EUR][1000 genomes]
rs9877649	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv877349	chr3:113208224-113323787	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv877350	chr3:113208224-113332235	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113160800-113232600	Weak transcription	Right Ventricle	heart
2	chr3:113172800-113232800	Weak transcription	HSMMtube	muscle
3	chr3:113176400-113233200	Weak transcription	Gastric	stomach
4	chr3:113179600-113232400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:113179600-113232800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:113184000-113233200	Weak transcription	Pancreas	Pancrea
7	chr3:113201400-113232600	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:113202400-113232800	Weak transcription	Fetal Brain Female	brain
9	chr3:113204600-113232800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:113204600-113233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:113204600-113233200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:113204600-113233200	Weak transcription	Esophagus	oesophagus
13	chr3:113204800-113232400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:113204800-113232600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:113204800-113232800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:113204800-113233200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:113207600-113232600	Weak transcription	NHEK	skin
18	chr3:113207600-113233000	Weak transcription	Psoas Muscle	Psoas
19	chr3:113207800-113233000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:113209000-113232600	Weak transcription	Fetal Kidney	kidney
21	chr3:113209200-113232800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:113209400-113232800	Weak transcription	Stomach Mucosa	stomach
23	chr3:113209800-113232800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:113210000-113233000	Weak transcription	HSMM	muscle
25	chr3:113210200-113233200	Weak transcription	Colonic Mucosa	Colon
26	chr3:113210400-113232600	Weak transcription	NHLF	lung
27	chr3:113212200-113232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:113212400-113232600	Weak transcription	Brain Angular Gyrus	brain
29	chr3:113212400-113232600	Weak transcription	NHDF-Ad	bronchial
30	chr3:113216000-113232600	Weak transcription	HMEC	breast
31	chr3:113217400-113232400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:113217600-113232800	Weak transcription	Brain Anterior Caudate	brain
33	chr3:113217800-113232400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:113217800-113232400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr3:113217800-113232800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr3:113217800-113233000	Weak transcription	Small Intestine	intestine
37	chr3:113218200-113232600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:113218200-113232600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:113218200-113232800	Weak transcription	NH-A	brain
40	chr3:113218400-113232600	Weak transcription	Osteobl	bone
41	chr3:113218400-113232800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr3:113218400-113232800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:113218400-113232800	Weak transcription	Fetal Intestine Large	intestine
44	chr3:113219000-113232600	Weak transcription	HUVEC	blood vessel
45	chr3:113221400-113232400	Weak transcription	Fetal Lung	lung
46	chr3:113224600-113232600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:113224800-113232200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:113224800-113232600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:113224800-113232800	Weak transcription	Fetal Stomach	stomach
50	chr3:113225000-113232200	Weak transcription	Colon Smooth Muscle	Colon

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