Variant report

Variant	rs7215552
Chromosome Location	chr17:19557794-19557795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19552797..19555708-chr17:19557293..19559431,2	MCF-7	breast:
2	chr17:19550266..19552397-chr17:19557719..19560014,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264932	Chromatin interaction
ENSG00000072210	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28672208	1.00[AMR][1000 genomes]
rs59733667	1.00[AMR][1000 genomes]
rs59997043	1.00[AMR][1000 genomes]
rs60425436	1.00[AMR][1000 genomes]
rs61420595	1.00[AMR][1000 genomes]
rs7208792	1.00[AMR][1000 genomes]
rs7225451	1.00[AMR][1000 genomes]
rs8071025	1.00[AMR][1000 genomes]
rs8073767	1.00[AMR][1000 genomes]
rs8079509	1.00[AMR][1000 genomes]
rs8080984	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	esv2757654	chr17:19485735-19563766	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	esv2758679	chr17:19485735-19563766	Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1055361	chr17:19515267-19582503	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	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
8	nsv934250	chr17:19551657-19561421	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv933216	chr17:19555486-19561421	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19552800-19557800	Weak transcription	Placenta	Placenta
2	chr17:19553200-19557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:19553200-19558200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:19553200-19558200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr17:19553200-19558400	Weak transcription	Primary T cells from cord blood	blood
6	chr17:19553200-19566800	Weak transcription	Primary B cells from cord blood	blood
7	chr17:19553200-19577400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr17:19553200-19580000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr17:19553400-19558200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr17:19553400-19566400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:19553800-19560000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:19554400-19559400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr17:19554800-19574400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:19555000-19558200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr17:19555000-19558200	Weak transcription	Fetal Brain Male	brain
16	chr17:19555000-19558400	Weak transcription	HSMM	muscle
17	chr17:19555000-19560400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:19555000-19561400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr17:19555000-19561400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:19555000-19563400	Strong transcription	Fetal Stomach	stomach
21	chr17:19555000-19568800	Weak transcription	NH-A	brain
22	chr17:19555000-19581800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:19555000-19582800	Weak transcription	HUVEC	blood vessel
24	chr17:19555200-19559200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr17:19555200-19566400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr17:19555200-19566600	Weak transcription	NHDF-Ad	bronchial
27	chr17:19555200-19569800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr17:19555200-19576400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr17:19555400-19558200	Weak transcription	Brain Substantia Nigra	brain
30	chr17:19555400-19559000	Weak transcription	Psoas Muscle	Psoas
31	chr17:19555400-19570000	Strong transcription	Fetal Muscle Leg	muscle
32	chr17:19555600-19558000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr17:19555600-19558200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:19555600-19558200	Weak transcription	GM12878-XiMat	blood
35	chr17:19555600-19558400	Weak transcription	HSMMtube	muscle
36	chr17:19555600-19562200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr17:19555600-19567200	Weak transcription	Right Atrium	heart
38	chr17:19555600-19569800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:19555600-19578600	Weak transcription	Small Intestine	intestine
40	chr17:19555800-19557800	Weak transcription	Aorta	Aorta
41	chr17:19555800-19557800	Enhancers	Liver	Liver
42	chr17:19555800-19557800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr17:19555800-19557800	Strong transcription	Lung	lung
44	chr17:19555800-19558000	Strong transcription	Brain Germinal Matrix	brain
45	chr17:19555800-19558200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr17:19555800-19558200	Weak transcription	Fetal Heart	heart
47	chr17:19555800-19559000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr17:19555800-19559200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr17:19555800-19560800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr17:19555800-19560800	Strong transcription	Left Ventricle	heart

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