Variant report

Variant	rs219830
Chromosome Location	chr7:98597756-98597757
allele	C/G
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	chr7:98597706-98597878	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000238109	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10215494	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10230563	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10242106	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11768515	1.00[EUR][1000 genomes]
rs11769458	0.87[EUR][1000 genomes]
rs122152	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs160385	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs160386	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs160387	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs160388	1.00[EUR][1000 genomes]
rs160390	0.87[EUR][1000 genomes]
rs160391	1.00[EUR][1000 genomes]
rs1709724	0.87[EUR][1000 genomes]
rs1709725	1.00[EUR][1000 genomes]
rs1709727	1.00[EUR][1000 genomes]
rs17161491	1.00[EUR][1000 genomes]
rs219794	1.00[EUR][1000 genomes]
rs219796	0.87[EUR][1000 genomes]
rs219801	1.00[EUR][1000 genomes]
rs219802	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219803	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219809	1.00[EUR][1000 genomes]
rs219810	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219811	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219812	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219818	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219832	0.81[AFR][1000 genomes]
rs219835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219836	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219837	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219840	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs310736	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs310737	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs310738	0.87[EUR][1000 genomes]
rs310739	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs310741	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs310742	1.00[EUR][1000 genomes]
rs310743	0.89[EUR][1000 genomes]
rs310744	1.00[EUR][1000 genomes]
rs4413705	1.00[EUR][1000 genomes]
rs60914761	0.87[EUR][1000 genomes]
rs60932686	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61239201	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6945370	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6956697	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6959321	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6960312	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967096	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73393198	0.87[EUR][1000 genomes]
rs73393201	0.87[EUR][1000 genomes]
rs73395129	1.00[EUR][1000 genomes]
rs73407188	1.00[EUR][1000 genomes]
rs73409107	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409108	0.87[EUR][1000 genomes]
rs7457148	0.82[AFR][1000 genomes]
rs7807059	0.87[EUR][1000 genomes]
rs882394	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1847495	chr7:98556216-98648069	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1034506	chr7:98556216-98678440	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98477800-98599600	Weak transcription	Right Atrium	heart
2	chr7:98478000-98618600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:98478200-98606000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:98478600-98613800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:98478600-98614400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:98478600-98614800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:98478800-98613600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:98478800-98614200	Strong transcription	Placenta	Placenta
9	chr7:98482400-98613600	Strong transcription	Dnd41	blood
10	chr7:98485000-98615400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:98487200-98603000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:98520800-98598400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:98522000-98614200	Strong transcription	Liver	Liver
14	chr7:98529400-98614800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:98529600-98614400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:98529600-98614600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr7:98531000-98613600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:98531000-98613600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:98542800-98618400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:98543000-98613600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:98558800-98598800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr7:98579200-98601000	Strong transcription	HepG2	liver
23	chr7:98583800-98648800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:98584000-98598000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:98584000-98602400	Strong transcription	Primary B cells from cord blood	blood
26	chr7:98584000-98611800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:98584000-98613800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:98584000-98614600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:98584200-98599400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:98584600-98614200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:98584600-98614600	Strong transcription	Fetal Muscle Leg	muscle
32	chr7:98584800-98618400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:98585400-98613600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:98585600-98614600	Strong transcription	Fetal Stomach	stomach
35	chr7:98586200-98614200	Strong transcription	Fetal Intestine Small	intestine
36	chr7:98587000-98613600	Strong transcription	Primary T cells from cord blood	blood
37	chr7:98587000-98613600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:98587400-98614000	Strong transcription	Thymus	Thymus
39	chr7:98587600-98613600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr7:98587600-98620200	Strong transcription	Fetal Thymus	thymus
41	chr7:98591800-98614200	Strong transcription	Fetal Brain Female	brain
42	chr7:98592200-98602400	Weak transcription	Fetal Brain Male	brain
43	chr7:98593000-98605600	Weak transcription	Stomach Mucosa	stomach
44	chr7:98593200-98597800	Strong transcription	K562	blood
45	chr7:98593800-98598000	Weak transcription	Small Intestine	intestine
46	chr7:98594000-98597800	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:98594000-98598400	Weak transcription	NHDF-Ad	bronchial
48	chr7:98594000-98599400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:98594000-98599800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:98594000-98599800	Weak transcription	Fetal Heart	heart

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