Variant report

Variant	rs7247610
Chromosome Location	chr19:22006615-22006616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:22005642-22008622	K562	blood:	n/a	n/a
2	POLR2A	chr19:22006093-22006762	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr19:22006587-22007501	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:22006400-22006650	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:22005879-22007545	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:22006072-22007517	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:22006611-22006686	MCF-7	breast:	n/a	n/a
8	POLR2A	chr19:22006547-22006786	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:22006168..22008886-chr19:22011045..22012715,2	K562	blood:

Variant related genes	Relation type
ENSG00000268438	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10407896	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10414358	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12463314	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12609186	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1877130	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2244127	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2435036	0.89[ASN][1000 genomes]
rs2435039	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2435049	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2457784	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2457792	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2457794	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2457798	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2457800	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4075276	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv458525	chr19:21796943-22019697	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv578969	chr19:21796943-22019697	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
6	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv833784	chr19:21902647-22037153	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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	9 gene(s)	inside rSNPs	diseases
9	nsv1059079	chr19:21940891-22083420	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv578971	chr19:21950337-22008229	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv3395280	chr19:21968753-22202288	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv911428	chr19:21986292-22106951	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv911429	chr19:21986292-22110219	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 Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv961194	chr19:21998424-22019912	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs7247610	ZNF100	cis	Nerve Tibial	GTEx
rs7247610	ZNF100	Cis_1M	lymphoblastoid	RTeQTL
rs7247610	RP11-420K14.3	cis	Whole Blood	GTEx
rs7247610	VN1R84P	cis	lung	GTEx
rs7247610	RP11-420K14.3	cis	Esophagus Muscularis	GTEx
rs7247610	ZNF100	cis	lung	GTEx
rs7247610	ZNF100	cis	Muscle Skeletal	GTEx
rs7247610	ZNF100	cis	Artery Tibial	GTEx
rs7247610	ZNF100	cis	Adipose Subcutaneous	GTEx
rs7247610	ZNF100	cis	Esophagus Muscularis	GTEx
rs7247610	RP11-420K14.3	cis	lung	GTEx
rs7247610	RP11-420K14.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21985600-22011000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:21988600-22018000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:21988800-22017200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:21989800-22013000	ZNF genes & repeats	Brain Germinal Matrix	brain
5	chr19:21990800-22017600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:21991200-22010800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:21995000-22016600	Weak transcription	K562	blood
8	chr19:21999800-22008400	Weak transcription	Right Ventricle	heart
9	chr19:21999800-22009000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:21999800-22009400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:21999800-22018200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:22000800-22007800	Weak transcription	Fetal Kidney	kidney
13	chr19:22000800-22008200	Weak transcription	HSMM	muscle
14	chr19:22000800-22008400	Weak transcription	Placenta	Placenta
15	chr19:22000800-22018200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:22000800-22018200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr19:22001000-22008400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr19:22001000-22012600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:22001000-22014000	Weak transcription	Psoas Muscle	Psoas
20	chr19:22001000-22018000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:22001000-22018000	Weak transcription	Brain Anterior Caudate	brain
22	chr19:22001000-22018000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr19:22001200-22009200	Weak transcription	Pancreas	Pancrea
24	chr19:22001200-22018200	Weak transcription	Gastric	stomach
25	chr19:22001400-22009200	Weak transcription	Spleen	Spleen
26	chr19:22001400-22012600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr19:22001600-22008400	Weak transcription	Ovary	ovary
28	chr19:22001600-22008600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:22001800-22007000	Weak transcription	Osteobl	bone
30	chr19:22001800-22008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:22002000-22006800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:22002000-22007200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr19:22002000-22007800	Weak transcription	Left Ventricle	heart
34	chr19:22002000-22014600	Weak transcription	NHLF	lung
35	chr19:22002000-22017800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr19:22002200-22008600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr19:22002200-22009000	Weak transcription	Brain Hippocampus Middle	brain
38	chr19:22002400-22008200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr19:22002600-22008200	Weak transcription	Adipose Nuclei	Adipose
40	chr19:22002600-22018000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:22002800-22007000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr19:22002800-22008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:22002800-22008400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:22004000-22014000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:22004000-22015000	ZNF genes & repeats	Dnd41	blood
46	chr19:22004000-22015800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
47	chr19:22004000-22017600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr19:22004000-22017800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:22004200-22007800	Weak transcription	Colon Smooth Muscle	Colon
50	chr19:22004200-22010200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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