Variant report

Variant	rs17141973
Chromosome Location	chr7:19813372-19813373
allele	A/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	CTCF	chr7:19813320-19813470	HRPEpiC	eye:	n/a	n/a
2	RAD21	chr7:19812471-19813386	H1-hESC	embryonic stem cell:	n/a	chr7:19813338-19813348 chr7:19812517-19812531
3	TAF1	chr7:19812670-19813597	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr7:19813320-19813470	HAc	cerebellar:	n/a	n/a
5	CTCF	chr7:19813240-19813390	HCM	heart:	n/a	n/a
6	JUND	chr7:19812487-19813387	H1-hESC	embryonic stem cell:	n/a	chr7:19812617-19812631
7	CREB1	chr7:19812810-19813571	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:19811640-19813510	H1-neurons	neurons:	n/a	n/a
9	CTCF	chr7:19813260-19813410	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr7:19813260-19813410	HRE	kidney:	n/a	n/a
11	POLR2A	chr7:19811609-19813496	H1-neurons	neurons:	n/a	n/a
12	CREB1	chr7:19812837-19813489	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTBP2	chr7:19812282-19813636	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr7:19811940-19813407	H1-neurons	neurons:	n/a	n/a
15	SIN3A	chr7:19811749-19813519	H1-hESC	embryonic stem cell:	n/a	chr7:19812659-19812672 chr7:19812664-19812678 chr7:19813152-19813165 chr7:19812656-19812665
16	REST	chr7:19811647-19813838	H1-neurons	neurons:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19813152-19813165 chr7:19812913-19812923

Variant related genes	Relation type
TMEM196	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17141923	1.00[EUR][1000 genomes]
rs17142012	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17142014	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17142015	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57657485	1.00[EUR][1000 genomes]
rs60323090	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61156122	1.00[EUR][1000 genomes]
rs61178120	1.00[EUR][1000 genomes]
rs73261310	1.00[EUR][1000 genomes]
rs73274064	1.00[EUR][1000 genomes]
rs73682836	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73682837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv830918	chr7:19747674-19914527	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv1847477	chr7:19778086-19970584	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19809600-19813600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:19811200-19813400	Active TSS	Fetal Brain Female	brain
3	chr7:19811400-19813600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
4	chr7:19811600-19813600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:19811800-19813400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:19811800-19813600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:19811800-19813600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:19811800-19813600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:19812000-19813400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:19812000-19813400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr7:19812000-19813400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr7:19812000-19813400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:19812000-19813400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr7:19812000-19813600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:19812000-19813600	Enhancers	Ovary	ovary
16	chr7:19812000-19813600	Enhancers	Pancreas	Pancrea
17	chr7:19812200-19813400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:19812200-19813400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:19812200-19813400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:19812200-19813400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr7:19812200-19813400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:19812200-19813400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr7:19812200-19813400	Bivalent Enhancer	Placenta	Placenta
24	chr7:19812200-19813400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr7:19812200-19813600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:19812400-19813400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr7:19812400-19813400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr7:19812400-19813600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:19812600-19813400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr7:19812600-19813400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:19812600-19813400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr7:19812600-19813600	Active TSS	Brain Anterior Caudate	brain
33	chr7:19812600-19813600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
34	chr7:19812600-19813600	Enhancers	Gastric	stomach
35	chr7:19812800-19813400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
36	chr7:19812800-19813400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr7:19813000-19813400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:19813000-19813400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:19813000-19813400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
40	chr7:19813000-19813400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
41	chr7:19813000-19813400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr7:19813000-19813400	Bivalent Enhancer	Stomach Mucosa	stomach
43	chr7:19813000-19813600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:19813000-19813600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr7:19813000-19813600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:19813200-19813400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:19813200-19813400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:19813200-19813400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:19813200-19813400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
50	chr7:19813200-19813400	Bivalent Enhancer	Colon Smooth Muscle	Colon

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