Variant report

Variant	rs73930675
Chromosome Location	chr19:40456884-40456885
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40449562..40451317-chr19:40454220..40457109,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187534	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10410695	1.00[EUR][1000 genomes]
rs10418448	1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	1.00[EUR][1000 genomes]
rs10427117	1.00[EUR][1000 genomes]
rs11883159	1.00[EUR][1000 genomes]
rs13382054	1.00[EUR][1000 genomes]
rs16973603	1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234312	1.00[EUR][1000 genomes]
rs234316	1.00[EUR][1000 genomes]
rs234319	1.00[EUR][1000 genomes]
rs234321	1.00[EUR][1000 genomes]
rs234322	1.00[EUR][1000 genomes]
rs234327	1.00[EUR][1000 genomes]
rs234339	1.00[EUR][1000 genomes]
rs234342	1.00[EUR][1000 genomes]
rs2542302	1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28776318	1.00[EUR][1000 genomes]
rs28832070	1.00[EUR][1000 genomes]
rs337795	1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs59707868	1.00[EUR][1000 genomes]
rs60631264	1.00[EUR][1000 genomes]
rs61424085	1.00[EUR][1000 genomes]
rs7245930	1.00[EUR][1000 genomes]
rs7250945	1.00[EUR][1000 genomes]
rs7257627	1.00[EUR][1000 genomes]
rs7258111	1.00[EUR][1000 genomes]
rs73930678	1.00[EUR][1000 genomes]
rs73930679	1.00[EUR][1000 genomes]
rs8104264	1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	1.00[EUR][1000 genomes]
rs9783944	1.00[EUR][1000 genomes]

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	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40447800-40457000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40448400-40457600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:40449200-40457200	Weak transcription	Small Intestine	intestine
4	chr19:40450000-40461200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr19:40450000-40461800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr19:40450400-40458600	Weak transcription	Thymus	Thymus
7	chr19:40450600-40457200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr19:40451600-40458800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr19:40452400-40457000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:40453000-40457000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr19:40453000-40457600	Weak transcription	Stomach Mucosa	stomach
12	chr19:40453000-40466000	Weak transcription	Fetal Intestine Small	intestine
13	chr19:40453600-40457600	Enhancers	Primary B cells from peripheral blood	blood
14	chr19:40453600-40457600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr19:40454400-40459200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:40454800-40459000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr19:40454800-40460000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:40455000-40460400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr19:40455800-40458400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
20	chr19:40456000-40457000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:40456000-40457200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr19:40456000-40460400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:40456400-40459600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr19:40456600-40457600	Enhancers	Fetal Thymus	thymus
25	chr19:40456800-40457000	Enhancers	Primary T helper cells PMA-I stimulated	--

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