Variant report

Variant	rs1227559
Chromosome Location	chr19:37330564-37330565
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37327731..37330688-chr19:37341355..37343335,2	K562	blood:
2	chr19:37329288..37331381-chr19:37334889..37337614,2	K562	blood:
3	chr19:37329308..37331359-chr19:37364409..37366170,2	K562	blood:
4	chr19:37328153..37331214-chr19:37339535..37342855,6	K562	blood:
5	chr19:37327831..37331190-chr19:37339964..37343241,7	MCF-7	breast:
6	chr19:37327752..37331008-chr19:37336124..37344037,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251247	Chromatin interaction
ENSG00000197863	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10408063	1.00[ASN][1000 genomes]
rs10410939	1.00[ASN][1000 genomes]
rs10411150	0.90[ASN][1000 genomes]
rs10413876	1.00[ASN][1000 genomes]
rs10414240	1.00[ASN][1000 genomes]
rs10418271	1.00[ASN][1000 genomes]
rs11880022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880088	1.00[EUR][1000 genomes]
rs11880159	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11882245	1.00[EUR][1000 genomes]
rs11882652	1.00[EUR][1000 genomes]
rs11882672	1.00[EUR][1000 genomes]
rs11883006	1.00[EUR][1000 genomes]
rs11883155	1.00[EUR][1000 genomes]
rs11883207	1.00[EUR][1000 genomes]
rs11883279	1.00[EUR][1000 genomes]
rs1227561	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12459208	1.00[ASN][1000 genomes]
rs12459218	1.00[ASN][1000 genomes]
rs12459243	1.00[ASN][1000 genomes]
rs12459325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12459377	0.90[ASN][1000 genomes]
rs12459429	1.00[ASN][1000 genomes]
rs12459527	1.00[ASN][1000 genomes]
rs12459808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12459894	0.90[ASN][1000 genomes]
rs12459915	1.00[ASN][1000 genomes]
rs12459923	1.00[ASN][1000 genomes]
rs12460049	1.00[ASN][1000 genomes]
rs12460354	1.00[ASN][1000 genomes]
rs12460418	1.00[ASN][1000 genomes]
rs12460420	1.00[ASN][1000 genomes]
rs12460430	1.00[ASN][1000 genomes]
rs12460455	1.00[ASN][1000 genomes]
rs12460482	1.00[ASN][1000 genomes]
rs12460729	1.00[ASN][1000 genomes]
rs12460774	1.00[ASN][1000 genomes]
rs12461023	1.00[ASN][1000 genomes]
rs12461264	1.00[ASN][1000 genomes]
rs12461265	1.00[ASN][1000 genomes]
rs12461280	1.00[ASN][1000 genomes]
rs12461436	1.00[ASN][1000 genomes]
rs12461474	1.00[ASN][1000 genomes]
rs12461721	1.00[ASN][1000 genomes]
rs12461738	1.00[ASN][1000 genomes]
rs12461954	1.00[ASN][1000 genomes]
rs12462037	1.00[ASN][1000 genomes]
rs12462268	1.00[ASN][1000 genomes]
rs12462281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12462325	1.00[ASN][1000 genomes]
rs12462454	1.00[ASN][1000 genomes]
rs12462471	0.90[ASN][1000 genomes]
rs12462635	1.00[ASN][1000 genomes]
rs12463012	0.90[ASN][1000 genomes]
rs12974130	1.00[ASN][1000 genomes]
rs12974446	1.00[ASN][1000 genomes]
rs1625762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973489	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468285	1.00[ASN][1000 genomes]
rs1990964	0.90[ASN][1000 genomes]
rs2385414	1.00[EUR][1000 genomes]
rs2385565	1.00[EUR][1000 genomes]
rs25419	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25420	1.00[EUR][1000 genomes]
rs28398875	1.00[ASN][1000 genomes]
rs28465595	1.00[ASN][1000 genomes]
rs28472526	1.00[ASN][1000 genomes]
rs28645577	1.00[ASN][1000 genomes]
rs28742010	1.00[ASN][1000 genomes]
rs28818888	1.00[ASN][1000 genomes]
rs34051375	1.00[ASN][1000 genomes]
rs35621405	1.00[ASN][1000 genomes]
rs35706444	1.00[ASN][1000 genomes]
rs3859520	0.90[ASN][1000 genomes]
rs485256	1.00[EUR][1000 genomes]
rs491951	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs500244	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58245911	1.00[ASN][1000 genomes]
rs60268308	1.00[ASN][1000 genomes]
rs60615280	1.00[ASN][1000 genomes]
rs61750934	1.00[ASN][1000 genomes]
rs6510562	1.00[ASN][1000 genomes]
rs73609133	1.00[ASN][1000 genomes]
rs73612031	1.00[ASN][1000 genomes]
rs73612043	1.00[ASN][1000 genomes]
rs73615692	1.00[ASN][1000 genomes]
rs73615693	0.90[ASN][1000 genomes]
rs7508258	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104355	0.90[ASN][1000 genomes]
rs8111419	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
18	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
19	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	esv3354270	chr19:37309161-37364929	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
22	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr19:37329400-37330600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr19:37329800-37333800	Weak transcription	Ovary	ovary
3	chr19:37329800-37334000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr19:37329800-37334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:37329800-37334000	Weak transcription	Thymus	Thymus
6	chr19:37329800-37337000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:37329800-37339000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:37329800-37339600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:37329800-37339600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:37330000-37330600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:37330000-37330600	Enhancers	Lung	lung
12	chr19:37330000-37330600	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr19:37330000-37331000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:37330000-37331200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:37330000-37331200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:37330000-37331200	Weak transcription	Psoas Muscle	Psoas
17	chr19:37330000-37331400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr19:37330000-37333600	Weak transcription	Primary T cells from cord blood	blood
19	chr19:37330000-37333800	Weak transcription	NH-A	brain
20	chr19:37330000-37334000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:37330000-37334000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr19:37330000-37334000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:37330000-37334000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:37330000-37334000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:37330000-37334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr19:37330000-37334000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:37330000-37334000	Weak transcription	Brain Substantia Nigra	brain
28	chr19:37330000-37334000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr19:37330000-37334000	Weak transcription	Fetal Muscle Leg	muscle
30	chr19:37330000-37334000	Weak transcription	Left Ventricle	heart
31	chr19:37330000-37334000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:37330000-37334200	Weak transcription	Fetal Stomach	stomach
33	chr19:37330000-37334200	Weak transcription	Pancreas	Pancrea
34	chr19:37330000-37334400	Weak transcription	Esophagus	oesophagus
35	chr19:37330000-37335000	Weak transcription	Fetal Thymus	thymus
36	chr19:37330000-37335200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr19:37330000-37336400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr19:37330000-37339600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:37330000-37340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr19:37330000-37340000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr19:37330000-37340000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:37330000-37340000	Weak transcription	Fetal Brain Male	brain
43	chr19:37330000-37340000	Weak transcription	Right Ventricle	heart
44	chr19:37330000-37340400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:37330000-37340400	Weak transcription	Colonic Mucosa	Colon
46	chr19:37330000-37340400	Weak transcription	Placenta	Placenta
47	chr19:37330000-37340400	Weak transcription	Stomach Mucosa	stomach
48	chr19:37330000-37340600	Weak transcription	Gastric	stomach
49	chr19:37330000-37340600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr19:37330000-37340600	Weak transcription	Spleen	Spleen

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