Variant report

Variant	rs7221750
Chromosome Location	chr17:19876763-19876764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19875702..19877605-chr17:19877615..19879225,2	MCF-7	breast:
2	chr17:19874894..19877588-chr17:19882059..19884637,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56178618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57853272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58524683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59395638	1.00[AMR][1000 genomes]
rs59704385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7215558	0.86[AFR][1000 genomes]
rs73980725	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980759	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980789	0.97[AFR][1000 genomes]
rs73980794	1.00[AFR][1000 genomes]
rs73984562	0.88[AFR][1000 genomes]
rs8064839	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8066256	0.94[AFR][1000 genomes]
rs8073950	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8082216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19840000-19879200	Weak transcription	Fetal Brain Male	brain
2	chr17:19850600-19879200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:19850600-19880200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:19850600-19880200	Weak transcription	Aorta	Aorta
5	chr17:19852200-19879400	Weak transcription	Esophagus	oesophagus
6	chr17:19852200-19879600	Weak transcription	Right Ventricle	heart
7	chr17:19852200-19880000	Weak transcription	Psoas Muscle	Psoas
8	chr17:19857400-19880400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:19857600-19880200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:19859000-19877200	Strong transcription	Fetal Thymus	thymus
11	chr17:19859200-19878600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr17:19859600-19876800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr17:19859800-19879400	Weak transcription	Brain Angular Gyrus	brain
14	chr17:19861800-19878600	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:19861800-19880000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr17:19862000-19876800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr17:19862000-19879000	Weak transcription	Brain Substantia Nigra	brain
18	chr17:19862000-19879200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr17:19862000-19880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr17:19862000-19880200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:19862200-19880000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr17:19863400-19877200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr17:19863400-19879600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:19863600-19879800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:19865000-19879600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr17:19865200-19880200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr17:19865800-19879000	Weak transcription	Brain Anterior Caudate	brain
28	chr17:19866200-19879000	Weak transcription	Brain Hippocampus Middle	brain
29	chr17:19866400-19879400	Weak transcription	Spleen	Spleen
30	chr17:19867400-19878000	Strong transcription	Fetal Intestine Large	intestine
31	chr17:19867800-19878000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:19869000-19880200	Weak transcription	HSMMtube	muscle
33	chr17:19869200-19879400	Weak transcription	Stomach Mucosa	stomach
34	chr17:19869800-19877200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:19870000-19878400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:19870200-19880000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr17:19870400-19879000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr17:19871000-19878600	Weak transcription	HepG2	liver
39	chr17:19871200-19878400	Weak transcription	Pancreas	Pancrea
40	chr17:19872000-19878600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr17:19872000-19878600	Weak transcription	NH-A	brain
42	chr17:19872000-19880000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr17:19872000-19880200	Weak transcription	Colonic Mucosa	Colon
44	chr17:19872600-19878200	Weak transcription	Small Intestine	intestine
45	chr17:19872600-19879200	Weak transcription	Osteobl	bone
46	chr17:19872600-19879400	Weak transcription	Left Ventricle	heart
47	chr17:19872600-19879600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:19872600-19880000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr17:19872800-19879400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:19872800-19879600	Weak transcription	Lung	lung

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