Variant report

Variant	rs9877649
Chromosome Location	chr3:113226874-113226875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:113225298..113228021-chr3:113252260..113254913,2	K562	blood:
2	chr3:113226745..113229675-chr3:113232290..113234085,2	K562	blood:
3	chr3:113224955..113227049-chr3:113228113..113230944,2	K562	blood:
4	chr3:113221446..113223983-chr3:113226030..113229483,4	MCF-7	breast:
5	chr3:113218236..113221321-chr3:113224097..113227027,4	K562	blood:

Variant related genes	Relation type
ENSG00000163611	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10511326	0.81[AMR][1000 genomes]
rs11537650	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066742	0.81[AMR][1000 genomes]
rs13082603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13092925	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13098166	0.81[AMR][1000 genomes]
rs1463643	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1471883	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1471884	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1486894	0.81[AMR][1000 genomes]
rs1552432	0.81[AMR][1000 genomes]
rs1552433	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2087130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2399477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2399480	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2614191	0.91[ASN][1000 genomes]
rs2669909	0.89[EUR][1000 genomes]
rs35860985	0.81[AMR][1000 genomes]
rs3732803	0.81[AMR][1000 genomes]
rs4396864	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4555494	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60634072	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6438156	0.81[AMR][1000 genomes]
rs6438157	0.81[AMR][1000 genomes]
rs6438158	0.81[AMR][1000 genomes]
rs6438159	0.81[AMR][1000 genomes]
rs6438160	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6438161	0.81[AMR][1000 genomes]
rs67211112	0.81[AMR][1000 genomes]
rs6768648	0.81[AMR][1000 genomes]
rs6768979	0.81[AMR][1000 genomes]
rs6769516	0.81[AMR][1000 genomes]
rs6769604	0.90[EUR][1000 genomes]
rs6783387	0.88[EUR][1000 genomes]
rs6793704	0.84[EUR][1000 genomes]
rs6798938	0.81[AMR][1000 genomes]
rs722392	0.81[AMR][1000 genomes]
rs72946748	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7618226	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7623919	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7628945	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7631082	0.81[AMR][1000 genomes]
rs7631138	0.81[AMR][1000 genomes]
rs7631335	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7635676	0.89[EUR][1000 genomes]
rs7637618	0.90[EUR][1000 genomes]
rs7646188	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7650671	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs869342	0.81[AMR][1000 genomes]
rs869343	0.81[AMR][1000 genomes]
rs9808893	0.81[AMR][1000 genomes]
rs9839921	0.81[AMR][1000 genomes]
rs9842559	0.87[EUR][1000 genomes]
rs9846539	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9852703	0.90[EUR][1000 genomes]
rs9854686	0.89[EUR][1000 genomes]
rs9870996	0.92[EUR][1000 genomes]
rs9872168	0.81[AMR][1000 genomes]
rs9874747	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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:103 , 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	chr3:113203400-113229200	Weak transcription	Lung	lung
10	chr3:113204400-113230600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:113204600-113232800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:113204600-113233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:113204600-113233200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:113204600-113233200	Weak transcription	Esophagus	oesophagus
15	chr3:113204800-113232400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:113204800-113232600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:113204800-113232800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:113204800-113233200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:113207600-113232600	Weak transcription	NHEK	skin
20	chr3:113207600-113233000	Weak transcription	Psoas Muscle	Psoas
21	chr3:113207800-113233000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:113209000-113232600	Weak transcription	Fetal Kidney	kidney
23	chr3:113209200-113232800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:113209400-113232800	Weak transcription	Stomach Mucosa	stomach
25	chr3:113209800-113228800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:113209800-113232800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:113210000-113233000	Weak transcription	HSMM	muscle
28	chr3:113210200-113233200	Weak transcription	Colonic Mucosa	Colon
29	chr3:113210400-113231600	Weak transcription	Fetal Intestine Small	intestine
30	chr3:113210400-113232600	Weak transcription	NHLF	lung
31	chr3:113212200-113232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:113212400-113232600	Weak transcription	Brain Angular Gyrus	brain
33	chr3:113212400-113232600	Weak transcription	NHDF-Ad	bronchial
34	chr3:113216000-113232600	Weak transcription	HMEC	breast
35	chr3:113217400-113232400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:113217600-113232800	Weak transcription	Brain Anterior Caudate	brain
37	chr3:113217800-113228000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:113217800-113232400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr3:113217800-113232400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr3:113217800-113232800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr3:113217800-113233000	Weak transcription	Small Intestine	intestine
42	chr3:113218200-113232600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr3:113218200-113232600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:113218200-113232800	Weak transcription	NH-A	brain
45	chr3:113218400-113232600	Weak transcription	Osteobl	bone
46	chr3:113218400-113232800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr3:113218400-113232800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:113218400-113232800	Weak transcription	Fetal Intestine Large	intestine
49	chr3:113219000-113232600	Weak transcription	HUVEC	blood vessel
50	chr3:113221400-113232000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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