Variant report

Variant	rs73985217
Chromosome Location	chr17:37915994-37915995
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37909095..37912398-chr17:37915882..37918594,4	MCF-7	breast:
2	chr17:37914453..37916682-chr17:37918420..37921116,2	MCF-7	breast:
3	chr17:37914758..37917458-chr17:37918636..37920879,2	K562	blood:
4	chr17:37907935..37911541-chr17:37914774..37918367,3	K562	blood:
5	chr17:37912122..37914127-chr17:37914525..37916336,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIEN1-1	chr17:37913974-37920089	ENSG00000264198.1

No data

Variant related genes	Relation type
ENSG00000264198	Chromatin interaction

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

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

rs_ID	r²[population]
rs12942343	1.00[EUR][1000 genomes]
rs12947955	1.00[EUR][1000 genomes]
rs1453558	0.85[AMR][1000 genomes]
rs16965388	1.00[AMR][1000 genomes]
rs1810131	1.00[EUR][1000 genomes]
rs2016793	1.00[EUR][1000 genomes]
rs73985213	1.00[EUR][1000 genomes]
rs73985214	1.00[EUR][1000 genomes]
rs73985215	1.00[EUR][1000 genomes]
rs73985216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985219	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985226	1.00[AMR][1000 genomes]
rs73985227	0.85[AMR][1000 genomes]
rs73985230	1.00[AMR][1000 genomes]
rs9652839	1.00[EUR][1000 genomes]
rs9674624	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	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37911800-37918600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr17:37912000-37916600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:37912000-37930400	Weak transcription	Esophagus	oesophagus
4	chr17:37912200-37916400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr17:37912400-37916400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr17:37912400-37917400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr17:37912800-37916000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:37912800-37916000	Enhancers	Thymus	Thymus
9	chr17:37912800-37917000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr17:37912800-37927400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:37913200-37916600	Enhancers	Primary B cells from cord blood	blood
12	chr17:37913400-37916400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr17:37913600-37926400	Genic enhancers	Fetal Thymus	thymus
14	chr17:37914400-37916800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:37914400-37921200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr17:37914400-37921600	Weak transcription	Spleen	Spleen
17	chr17:37914600-37916000	Bivalent Enhancer	HepG2	liver
18	chr17:37915000-37917000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr17:37915200-37917000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr17:37915400-37916800	Weak transcription	Primary T cells from cord blood	blood
21	chr17:37915400-37918800	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr17:37915600-37918600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:37915800-37916000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
24	chr17:37915800-37916000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr17:37915800-37916000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:37915800-37916000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr17:37915800-37916000	Enhancers	Duodenum Mucosa	Duodenum
28	chr17:37915800-37916000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
29	chr17:37915800-37926000	Genic enhancers	Primary T cells fromperipheralblood	blood

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