Variant report

Variant	rs60509946
Chromosome Location	chr19:45679906-45679907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45578352..45580821-chr19:45679388..45681588,2	K562	blood:
2	chr19:45654421..45658397-chr19:45679888..45682724,3	K562	blood:
3	chr19:45644450..45646816-chr19:45679774..45683109,3	MCF-7	breast:
4	chr19:45679504..45683518-chr19:45685241..45688488,5	MCF-7	breast:
5	chr19:45596183..45598071-chr19:45678820..45681016,3	K562	blood:

Variant related genes	Relation type
ENSG00000225157	Chromatin interaction
ENSG00000179846	Chromatin interaction
ENSG00000170684	Chromatin interaction
ENSG00000104866	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16979659	1.00[AMR][1000 genomes]
rs16979703	1.00[AMR][1000 genomes]
rs56213215	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56405239	1.00[AMR][1000 genomes]
rs57454146	1.00[AMR][1000 genomes]
rs58584483	1.00[AMR][1000 genomes]
rs60530130	1.00[AMR][1000 genomes]
rs73939603	1.00[AMR][1000 genomes]
rs73939647	1.00[AMR][1000 genomes]
rs73939649	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73941103	1.00[AMR][1000 genomes]
rs73941104	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv912144	chr19:45636319-45687446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv1795888	chr19:45650386-45681988	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1798099	chr19:45664218-45681988	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	esv1791796	chr19:45673701-45681988	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	esv1794498	chr19:45673701-45691040	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	esv1005203	chr19:45675812-45684868	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases
12	esv2422482	chr19:45676705-45769805	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45665400-45680400	Weak transcription	Brain Substantia Nigra	brain
2	chr19:45665400-45680600	Weak transcription	Fetal Lung	lung
3	chr19:45665600-45680400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:45665800-45680200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:45665800-45680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:45667400-45681000	Weak transcription	Aorta	Aorta
7	chr19:45668000-45680600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:45668400-45680400	Weak transcription	Fetal Intestine Large	intestine
9	chr19:45668400-45680600	Weak transcription	Colon Smooth Muscle	Colon
10	chr19:45668400-45680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:45668800-45680400	Weak transcription	Brain Anterior Caudate	brain
12	chr19:45668800-45680400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:45669000-45680200	Weak transcription	Fetal Brain Female	brain
14	chr19:45670200-45680200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:45670200-45680400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr19:45670600-45680400	Weak transcription	Brain Angular Gyrus	brain
17	chr19:45670600-45680400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:45670800-45680400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:45672400-45680800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr19:45673800-45680400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:45674200-45680400	Weak transcription	Ovary	ovary
22	chr19:45675000-45680200	Weak transcription	Dnd41	blood
23	chr19:45675200-45680400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:45675800-45680400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:45675800-45680800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:45676000-45680400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:45676000-45680400	Weak transcription	Adipose Nuclei	Adipose
28	chr19:45676000-45680400	Weak transcription	Gastric	stomach
29	chr19:45676000-45680400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr19:45676000-45680400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:45676000-45680400	Weak transcription	K562	blood
32	chr19:45676000-45680600	Weak transcription	Fetal Stomach	stomach
33	chr19:45676000-45680800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr19:45676200-45680200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:45676200-45680200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr19:45676200-45680400	Weak transcription	Colonic Mucosa	Colon
37	chr19:45676200-45680400	Weak transcription	Lung	lung
38	chr19:45676200-45680400	Weak transcription	Pancreas	Pancrea
39	chr19:45676200-45680400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr19:45676200-45680400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:45676200-45680400	Weak transcription	Small Intestine	intestine
42	chr19:45676200-45680400	Weak transcription	HUVEC	blood vessel
43	chr19:45676400-45680400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr19:45676400-45680400	Weak transcription	Right Ventricle	heart
45	chr19:45676400-45680600	Weak transcription	Right Atrium	heart
46	chr19:45677000-45680400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr19:45677000-45680600	Weak transcription	Stomach Mucosa	stomach
48	chr19:45677000-45680800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:45677400-45680400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:45677400-45680400	Weak transcription	Spleen	Spleen

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