Variant report

Variant	rs56199516
Chromosome Location	chr7:2910146-2910147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2901153..2903496-chr7:2907238..2910206,2	K562	blood:
2	chr7:2899669..2908273-chr7:2908845..2917311,19	MCF-7	breast:
3	chr7:2884125..2886886-chr7:2909522..2911680,2	MCF-7	breast:
4	chr7:2901153..2906506-chr7:2906847..2911402,6	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11766514	0.83[EUR][1000 genomes]
rs11770710	0.83[EUR][1000 genomes]
rs12533845	0.82[AMR][1000 genomes]
rs73033460	0.86[EUR][1000 genomes]
rs73033466	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73033479	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73033486	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73033488	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73033490	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73033494	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73033497	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73033498	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73033501	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73035208	0.82[AMR][1000 genomes]
rs73035210	0.83[AMR][1000 genomes]
rs73035221	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv887313	chr7:2875420-2927120	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv887314	chr7:2875420-2944187	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv887315	chr7:2895627-2935424	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
7	nsv526132	chr7:2904928-2968361	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv887316	chr7:2904928-2983520	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2900600-2910400	Weak transcription	Esophagus	oesophagus
2	chr7:2903400-2911400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:2903600-2921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:2903800-2912800	Weak transcription	Right Atrium	heart
5	chr7:2903800-2914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:2903800-2915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:2903800-2919000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:2904000-2910200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:2904000-2913200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:2905200-2913000	Weak transcription	HSMM	muscle
11	chr7:2905200-2919000	Weak transcription	Fetal Brain Male	brain
12	chr7:2908400-2911400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:2908800-2910200	Weak transcription	Brain Germinal Matrix	brain
14	chr7:2909400-2910800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:2909400-2913400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:2909600-2910200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:2909600-2910200	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:2909600-2910200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:2909600-2910600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:2909600-2910600	Flanking Active TSS	Ovary	ovary
21	chr7:2909600-2910600	Active TSS	Rectal Smooth Muscle	rectum
22	chr7:2909600-2910800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:2909600-2911000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr7:2909600-2911000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr7:2909600-2911000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:2909800-2910200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
27	chr7:2909800-2910200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr7:2909800-2910400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr7:2909800-2910600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:2909800-2910600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr7:2909800-2910600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:2909800-2910600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr7:2909800-2910600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr7:2909800-2910600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:2909800-2910600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:2909800-2910600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr7:2909800-2910600	Enhancers	Left Ventricle	heart
38	chr7:2909800-2910600	Enhancers	GM12878-XiMat	blood
39	chr7:2909800-2910800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:2909800-2910800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:2909800-2910800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:2909800-2910800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr7:2909800-2910800	Enhancers	Fetal Stomach	stomach
44	chr7:2909800-2910800	Enhancers	NHEK	skin
45	chr7:2909800-2911000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:2909800-2911200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr7:2909800-2911200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:2909800-2911200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr7:2909800-2911200	Enhancers	Placenta	Placenta
50	chr7:2909800-2911200	Enhancers	HUVEC	blood vessel

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