Variant report

Variant	rs757957
Chromosome Location	chr7:104784259-104784260
allele	A/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	chr7:104784162-104784461	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
SRPK2	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10429247	1.00[EUR][1000 genomes]
rs1204079	1.00[EUR][1000 genomes]
rs12111884	1.00[EUR][1000 genomes]
rs12705300	0.86[AFR][1000 genomes]
rs2299302	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28588491	1.00[EUR][1000 genomes]
rs28832590	1.00[EUR][1000 genomes]
rs55931372	1.00[EUR][1000 genomes]
rs56063525	1.00[EUR][1000 genomes]
rs56296263	1.00[EUR][1000 genomes]
rs56930622	1.00[EUR][1000 genomes]
rs57280586	1.00[EUR][1000 genomes]
rs58306520	1.00[EUR][1000 genomes]
rs59417293	1.00[EUR][1000 genomes]
rs59691189	1.00[EUR][1000 genomes]
rs60188077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60294737	1.00[EUR][1000 genomes]
rs60766560	1.00[EUR][1000 genomes]
rs73404021	1.00[EUR][1000 genomes]
rs73715438	1.00[EUR][1000 genomes]
rs73715439	1.00[EUR][1000 genomes]
rs73715452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73715545	1.00[EUR][1000 genomes]
rs73716467	1.00[EUR][1000 genomes]
rs73716650	1.00[EUR][1000 genomes]
rs73716654	1.00[EUR][1000 genomes]
rs73717957	1.00[EUR][1000 genomes]
rs73717959	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73717961	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73717963	1.00[EUR][1000 genomes]
rs73718220	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104678000-104812200	Strong transcription	Dnd41	blood
2	chr7:104740400-104787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:104752800-104807400	Weak transcription	Fetal Brain Male	brain
4	chr7:104753800-104822000	Weak transcription	Small Intestine	intestine
5	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
6	chr7:104755600-104790400	Weak transcription	NH-A	brain
7	chr7:104756400-104806600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:104759800-104788600	Strong transcription	Primary B cells from cord blood	blood
9	chr7:104761000-104804600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:104761200-104787200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:104762400-104787200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr7:104762800-104785000	Strong transcription	Primary T cells from cord blood	blood
13	chr7:104763200-104785000	Strong transcription	Fetal Intestine Large	intestine
14	chr7:104763400-104787000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:104763800-104784600	Strong transcription	Fetal Muscle Leg	muscle
16	chr7:104763800-104787400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:104764400-104785000	Strong transcription	Fetal Stomach	stomach
18	chr7:104764400-104785800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:104766600-104785600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:104767400-104786200	Weak transcription	Pancreas	Pancrea
21	chr7:104769800-104787000	Strong transcription	Thymus	Thymus
22	chr7:104770000-104787000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:104770200-104787800	Strong transcription	Fetal Thymus	thymus
24	chr7:104770400-104785200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:104771200-104784400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:104773400-104786800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:104775800-104787200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr7:104776400-104784400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:104776400-104788800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:104776600-104784400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:104776800-104787600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:104777200-104784400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:104777200-104790000	Weak transcription	NHDF-Ad	bronchial
34	chr7:104777200-104809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:104777400-104784400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:104777400-104784800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:104777400-104787200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:104777400-104798800	Weak transcription	Stomach Mucosa	stomach
39	chr7:104777800-104784400	Strong transcription	K562	blood
40	chr7:104777800-104805800	Weak transcription	Psoas Muscle	Psoas
41	chr7:104778000-104784400	Strong transcription	Placenta	Placenta
42	chr7:104778000-104784600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:104778000-104785000	Strong transcription	Aorta	Aorta
44	chr7:104778000-104807800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:104778400-104786800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:104779400-104785000	Strong transcription	Liver	Liver
47	chr7:104779800-104800400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:104780000-104786600	Weak transcription	Fetal Heart	heart
49	chr7:104780000-104790400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:104780000-104806200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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