Variant report

Variant	rs1227562
Chromosome Location	chr19:37333643-37333644
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37332133..37336118-chr19:37338996..37342341,4	MCF-7	breast:
2	chr19:37328893..37331026-chr19:37332754..37334779,3	K562	blood:

Variant related genes	Relation type
ENSG00000197863	Chromatin interaction
ENSG00000251247	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1144539	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1144540	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1227566	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1227588	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673087	0.81[EUR][1000 genomes]
rs2431776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486221	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs515496	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs518196	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs526145	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs566212	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62112553	0.80[EUR][1000 genomes]
rs826278	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs826966	0.82[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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	nsv458569	chr19:37331614-37412887	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv579462	chr19:37331614-37412887	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr19:37329800-37333800	Weak transcription	Ovary	ovary
2	chr19:37329800-37334000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr19:37329800-37334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:37329800-37334000	Weak transcription	Thymus	Thymus
5	chr19:37329800-37337000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:37329800-37339000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:37329800-37339600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:37329800-37339600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:37330000-37333800	Weak transcription	NH-A	brain
10	chr19:37330000-37334000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:37330000-37334000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr19:37330000-37334000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr19:37330000-37334000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:37330000-37334000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:37330000-37334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr19:37330000-37334000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:37330000-37334000	Weak transcription	Brain Substantia Nigra	brain
18	chr19:37330000-37334000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr19:37330000-37334000	Weak transcription	Fetal Muscle Leg	muscle
20	chr19:37330000-37334000	Weak transcription	Left Ventricle	heart
21	chr19:37330000-37334000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:37330000-37334200	Weak transcription	Fetal Stomach	stomach
23	chr19:37330000-37334200	Weak transcription	Pancreas	Pancrea
24	chr19:37330000-37334400	Weak transcription	Esophagus	oesophagus
25	chr19:37330000-37335000	Weak transcription	Fetal Thymus	thymus
26	chr19:37330000-37335200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:37330000-37336400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr19:37330000-37339600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:37330000-37340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:37330000-37340000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:37330000-37340000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:37330000-37340000	Weak transcription	Fetal Brain Male	brain
33	chr19:37330000-37340000	Weak transcription	Right Ventricle	heart
34	chr19:37330000-37340400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:37330000-37340400	Weak transcription	Colonic Mucosa	Colon
36	chr19:37330000-37340400	Weak transcription	Placenta	Placenta
37	chr19:37330000-37340400	Weak transcription	Stomach Mucosa	stomach
38	chr19:37330000-37340600	Weak transcription	Gastric	stomach
39	chr19:37330000-37340600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr19:37330000-37340600	Weak transcription	Spleen	Spleen
41	chr19:37330000-37340600	Weak transcription	HSMM	muscle
42	chr19:37330200-37334000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:37330200-37334000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:37330200-37334000	Weak transcription	HUVEC	blood vessel
45	chr19:37330200-37334200	Weak transcription	Brain Germinal Matrix	brain
46	chr19:37330200-37334200	Weak transcription	Fetal Brain Female	brain
47	chr19:37330200-37334400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr19:37330200-37335000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:37330200-37337600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr19:37330200-37340000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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