Variant report

Variant	rs73037195
Chromosome Location	chr19:37335241-37335242
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37332133..37336118-chr19:37338996..37342341,4	MCF-7	breast:
2	chr19:37329288..37331381-chr19:37334889..37337614,2	K562	blood:
3	chr19:37331659..37333471-chr19:37334083..37336419,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197863	Chromatin interaction
ENSG00000251247	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4806352	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806366	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55661810	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55752123	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55995417	1.00[ASN][1000 genomes]
rs56148414	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333504	0.83[EUR][1000 genomes]
rs62115567	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62115568	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7246310	0.85[EUR][1000 genomes]
rs7249694	0.84[EUR][1000 genomes]
rs73037167	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73037169	0.84[EUR][1000 genomes]
rs73037172	0.84[EUR][1000 genomes]
rs73039109	0.87[ASN][1000 genomes]
rs8107274	0.83[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73037195	AC012309.5	cis	Thyroid	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37329800-37337000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:37329800-37339000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr19:37329800-37339600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:37329800-37339600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:37330000-37336400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr19:37330000-37339600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:37330000-37340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:37330000-37340000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr19:37330000-37340000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:37330000-37340000	Weak transcription	Fetal Brain Male	brain
11	chr19:37330000-37340000	Weak transcription	Right Ventricle	heart
12	chr19:37330000-37340400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:37330000-37340400	Weak transcription	Colonic Mucosa	Colon
14	chr19:37330000-37340400	Weak transcription	Placenta	Placenta
15	chr19:37330000-37340400	Weak transcription	Stomach Mucosa	stomach
16	chr19:37330000-37340600	Weak transcription	Gastric	stomach
17	chr19:37330000-37340600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:37330000-37340600	Weak transcription	Spleen	Spleen
19	chr19:37330000-37340600	Weak transcription	HSMM	muscle
20	chr19:37330200-37337600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:37330200-37340000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:37330200-37340000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:37330200-37340000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:37330200-37340000	Weak transcription	Osteobl	bone
25	chr19:37330200-37340200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:37330200-37340200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:37330200-37340200	Weak transcription	Brain Angular Gyrus	brain
28	chr19:37330200-37340400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:37330400-37339000	Weak transcription	Brain Anterior Caudate	brain
30	chr19:37330400-37340000	Weak transcription	Colon Smooth Muscle	Colon
31	chr19:37330400-37340000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr19:37330400-37340200	Weak transcription	Fetal Kidney	kidney
33	chr19:37330400-37340200	Weak transcription	HepG2	liver
34	chr19:37330400-37340200	Weak transcription	NHDF-Ad	bronchial
35	chr19:37330600-37337000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr19:37331000-37335600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr19:37331200-37338000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:37331600-37340000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:37331800-37340600	Weak transcription	Psoas Muscle	Psoas
40	chr19:37332400-37340200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:37332800-37337200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:37332800-37339600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:37333800-37335400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:37333800-37335400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr19:37333800-37335800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:37333800-37339200	ZNF genes & repeats	Liver	Liver
47	chr19:37334000-37335400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:37334000-37335400	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr19:37334000-37335600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr19:37334000-37335600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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