Variant report

Variant	rs73554465
Chromosome Location	chr19:40366269-40366270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16973645	1.00[AMR][1000 genomes]
rs36094979	1.00[AMR][1000 genomes]
rs56897306	1.00[AMR][1000 genomes]
rs57756764	1.00[AMR][1000 genomes]
rs57910061	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv2483	chr19:40340641-40435505	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv510766	chr19:40344356-40453018	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1846322	chr19:40350730-40404261	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1851593	chr19:40353368-40405115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv482218	chr19:40353963-40440533	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1846009	chr19:40353983-40410533	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1066339	chr19:40357018-40427903	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1817068	chr19:40357271-40400950	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1060617	chr19:40358986-40393809	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
15	esv1815453	chr19:40360652-40404261	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv12245	chr19:40362630-40411824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv961218	chr19:40365009-40412126	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv1817860	chr19:40365173-40404261	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv1847247	chr19:40365173-40404261	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv1847508	chr19:40365173-40406611	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv1823796	chr19:40365173-40415061	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40349800-40369000	Weak transcription	Brain Anterior Caudate	brain
2	chr19:40350400-40372200	Weak transcription	Dnd41	blood
3	chr19:40352000-40372600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr19:40352400-40372400	Weak transcription	Fetal Intestine Large	intestine
5	chr19:40354200-40370800	Weak transcription	Fetal Brain Female	brain
6	chr19:40354600-40372200	Weak transcription	HepG2	liver
7	chr19:40355200-40372200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:40355800-40367200	Strong transcription	Primary T cells from cord blood	blood
9	chr19:40358400-40372200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:40359800-40369600	Weak transcription	Fetal Muscle Leg	muscle
11	chr19:40360400-40367000	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:40361000-40372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:40361200-40374000	Weak transcription	Pancreas	Pancrea
14	chr19:40364000-40366600	Weak transcription	Stomach Mucosa	stomach
15	chr19:40364400-40366800	Weak transcription	Fetal Intestine Small	intestine
16	chr19:40364400-40372200	Weak transcription	Right Atrium	heart
17	chr19:40364400-40372400	Weak transcription	Gastric	stomach
18	chr19:40364600-40366400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr19:40364600-40366600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr19:40364600-40369200	Weak transcription	Colonic Mucosa	Colon
21	chr19:40364800-40366600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr19:40365200-40366800	Enhancers	Placenta	Placenta
23	chr19:40365800-40366600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr19:40365800-40372200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr19:40365800-40372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:40366000-40367000	Enhancers	Spleen	Spleen
27	chr19:40366000-40369000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr19:40366200-40366400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:40366200-40366400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:40366200-40367000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:40366200-40367000	Bivalent Enhancer	Fetal Stomach	stomach
32	chr19:40366200-40372800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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