Variant report

Variant	rs157405
Chromosome Location	chr17:19710044-19710045
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	chr17:19707867..19710826-chr17:19712755..19715142,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083290	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs115326	1.00[CEU][hapmap]
rs118943	1.00[CEU][hapmap]
rs150122	1.00[CEU][hapmap]
rs157387	1.00[CEU][hapmap]
rs157388	1.00[CEU][hapmap]
rs157389	1.00[CEU][hapmap]
rs157390	1.00[CEU][hapmap]
rs157391	1.00[CEU][hapmap]
rs157393	1.00[CEU][hapmap]
rs157394	1.00[CEU][hapmap]
rs157395	1.00[CEU][hapmap]
rs157396	1.00[CEU][hapmap]
rs157397	1.00[CEU][hapmap]
rs157398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs157401	1.00[CEU][hapmap]
rs157402	1.00[CEU][hapmap]
rs157406	1.00[CEU][hapmap]
rs157408	1.00[CEU][hapmap]
rs157409	1.00[CEU][hapmap]
rs166838	1.00[CEU][hapmap]
rs169512	1.00[CEU][hapmap]
rs169513	1.00[CEU][hapmap]
rs172186	1.00[CEU][hapmap]
rs176098	1.00[CEU][hapmap]
rs184006	1.00[CEU][hapmap]
rs188138	1.00[CEU][hapmap]
rs192511	1.00[CEU][hapmap]
rs2010744	1.00[AFR][1000 genomes]
rs205088	0.82[CEU][hapmap]
rs205090	1.00[CEU][hapmap]
rs205093	1.00[CEU][hapmap]
rs205094	1.00[CEU][hapmap]
rs205096	1.00[CEU][hapmap]
rs205098	1.00[CEU][hapmap]
rs205099	1.00[CEU][hapmap]
rs205100	1.00[CEU][hapmap]
rs205103	1.00[CEU][hapmap]
rs205104	1.00[CEU][hapmap]
rs205107	1.00[CEU][hapmap]
rs205108	1.00[CEU][hapmap]
rs205110	1.00[CEU][hapmap]
rs205111	1.00[CEU][hapmap]
rs281327	1.00[CEU][hapmap]
rs281332	1.00[CEU][hapmap]
rs281333	1.00[CEU][hapmap]
rs281334	1.00[CEU][hapmap]
rs281342	1.00[CEU][hapmap]
rs281343	1.00[CEU][hapmap]
rs281346	1.00[CEU][hapmap]
rs281347	1.00[CEU][hapmap]
rs281348	1.00[CEU][hapmap]
rs281350	1.00[CEU][hapmap]
rs281351	1.00[CEU][hapmap]
rs281352	1.00[CEU][hapmap]
rs281353	1.00[CEU][hapmap]
rs281354	1.00[CEU][hapmap]
rs281355	1.00[CEU][hapmap]
rs281361	0.84[EUR][1000 genomes]
rs281362	0.84[EUR][1000 genomes]
rs281363	0.87[EUR][1000 genomes]
rs3098903	1.00[AFR][1000 genomes]
rs3098906	1.00[CEU][hapmap]
rs3101810	1.00[CEU][hapmap]
rs3101814	1.00[CEU][hapmap]
rs3101815	1.00[CEU][hapmap]
rs379703	1.00[CEU][hapmap]
rs395130	1.00[CEU][hapmap]
rs421561	1.00[CEU][hapmap]
rs6587203	1.00[CEU][hapmap]
rs917519	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19678200-19712000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:19680000-19726800	Weak transcription	NHLF	lung
4	chr17:19700200-19722600	Weak transcription	Esophagus	oesophagus
5	chr17:19700200-19727000	Weak transcription	Right Ventricle	heart
6	chr17:19700400-19745200	Weak transcription	Stomach Mucosa	stomach
7	chr17:19700400-19768400	Weak transcription	Fetal Heart	heart
8	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
9	chr17:19701000-19710800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr17:19701000-19726600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr17:19701000-19726800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:19701000-19727000	Weak transcription	Thymus	Thymus
13	chr17:19701000-19728000	Weak transcription	HUVEC	blood vessel
14	chr17:19701000-19728200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr17:19701000-19732400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:19701000-19743200	Weak transcription	Gastric	stomach
17	chr17:19701000-19743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:19701000-19748600	Weak transcription	Spleen	Spleen
19	chr17:19701000-19753400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr17:19701000-19766200	Weak transcription	Primary B cells from cord blood	blood
21	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
22	chr17:19701200-19710400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:19701200-19710400	Weak transcription	Pancreas	Pancrea
24	chr17:19701200-19710600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr17:19701200-19711800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr17:19701200-19758400	Weak transcription	Small Intestine	intestine
27	chr17:19701400-19726800	Weak transcription	HSMM	muscle
28	chr17:19701800-19712000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:19701800-19742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr17:19702000-19713400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr17:19702800-19713000	Strong transcription	Brain Germinal Matrix	brain
32	chr17:19703400-19711800	Weak transcription	Osteobl	bone
33	chr17:19703800-19727000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:19703800-19769800	Weak transcription	Psoas Muscle	Psoas
35	chr17:19704200-19711400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr17:19704200-19722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:19704200-19726000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:19704400-19712000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:19704400-19726400	Weak transcription	Fetal Thymus	thymus
40	chr17:19704400-19754800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr17:19704400-19770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr17:19704600-19721800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr17:19705200-19710200	Weak transcription	Liver	Liver
44	chr17:19705200-19710400	Weak transcription	Lung	lung
45	chr17:19705200-19710600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr17:19705200-19711800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr17:19705200-19712000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr17:19705200-19712000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr17:19705200-19712200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr17:19705200-19717600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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