Variant report

Variant	rs11920468
Chromosome Location	chr3:113230178-113230179
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	chr3:113224955..113227049-chr3:113228113..113230944,2	K562	blood:

Variant related genes	Relation type
ENSG00000072858	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11917869	1.00[AMR][1000 genomes]
rs11919091	1.00[AMR][1000 genomes]
rs11920233	1.00[AMR][1000 genomes]
rs11920795	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11921249	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11922003	1.00[AMR][1000 genomes]
rs11924899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11925633	1.00[AMR][1000 genomes]
rs11926656	1.00[AMR][1000 genomes]
rs11929188	1.00[AMR][1000 genomes]
rs16845110	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860854	1.00[AMR][1000 genomes]
rs16860875	1.00[AMR][1000 genomes]
rs16861019	1.00[AMR][1000 genomes]
rs16861059	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16861115	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7430385	1.00[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:97 , 50 per page) page: 1 2

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	chr3:113204400-113230600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:113204600-113232800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:113204600-113233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:113204600-113233200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:113204600-113233200	Weak transcription	Esophagus	oesophagus
14	chr3:113204800-113232400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:113204800-113232600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:113204800-113232800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:113204800-113233200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:113207600-113232600	Weak transcription	NHEK	skin
19	chr3:113207600-113233000	Weak transcription	Psoas Muscle	Psoas
20	chr3:113207800-113233000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:113209000-113232600	Weak transcription	Fetal Kidney	kidney
22	chr3:113209200-113232800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:113209400-113232800	Weak transcription	Stomach Mucosa	stomach
24	chr3:113209800-113232800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:113210000-113233000	Weak transcription	HSMM	muscle
26	chr3:113210200-113233200	Weak transcription	Colonic Mucosa	Colon
27	chr3:113210400-113231600	Weak transcription	Fetal Intestine Small	intestine
28	chr3:113210400-113232600	Weak transcription	NHLF	lung
29	chr3:113212200-113232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:113212400-113232600	Weak transcription	Brain Angular Gyrus	brain
31	chr3:113212400-113232600	Weak transcription	NHDF-Ad	bronchial
32	chr3:113216000-113232600	Weak transcription	HMEC	breast
33	chr3:113217400-113232400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr3:113217600-113232800	Weak transcription	Brain Anterior Caudate	brain
35	chr3:113217800-113232400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:113217800-113232400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr3:113217800-113232800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:113217800-113233000	Weak transcription	Small Intestine	intestine
39	chr3:113218200-113232600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:113218200-113232600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:113218200-113232800	Weak transcription	NH-A	brain
42	chr3:113218400-113232600	Weak transcription	Osteobl	bone
43	chr3:113218400-113232800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr3:113218400-113232800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:113218400-113232800	Weak transcription	Fetal Intestine Large	intestine
46	chr3:113219000-113232600	Weak transcription	HUVEC	blood vessel
47	chr3:113221400-113232000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:113221400-113232400	Weak transcription	Fetal Lung	lung
49	chr3:113221600-113231800	Weak transcription	Hela-S3	cervix
50	chr3:113224600-113232600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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