Variant report

Variant	rs59000305
Chromosome Location	chr7:38416291-38416292
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	chr7:38415288..38417406-chr7:38417942..38420287,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STARD3NL-1	chr7:38415158-38418238	ENSG00000250924
2	lnc-STARD3NL-1	chr7:38415158-38418238	NONHSAT120179

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10235885	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13226015	0.85[ASN][1000 genomes]
rs13231472	0.85[ASN][1000 genomes]
rs13242630	0.85[ASN][1000 genomes]
rs17158	0.85[ASN][1000 genomes]
rs2810	0.85[ASN][1000 genomes]
rs2893558	0.87[ASN][1000 genomes]
rs34824107	0.84[ASN][1000 genomes]
rs36122520	0.84[ASN][1000 genomes]
rs3735090	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3807427	0.85[ASN][1000 genomes]
rs41279573	0.84[ASN][1000 genomes]
rs57861366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59611922	0.84[AMR][1000 genomes]
rs60631522	0.83[ASN][1000 genomes]
rs66480552	0.84[ASN][1000 genomes]
rs66821754	0.85[ASN][1000 genomes]
rs66974435	0.85[ASN][1000 genomes]
rs67655107	0.84[ASN][1000 genomes]
rs68005665	0.85[ASN][1000 genomes]
rs6949992	0.81[ASN][1000 genomes]
rs6958539	0.94[AFR][1000 genomes]
rs6976922	0.84[ASN][1000 genomes]
rs6977263	0.85[ASN][1000 genomes]
rs73118105	0.85[ASN][1000 genomes]
rs73348814	0.92[AFR][1000 genomes]
rs73348817	0.89[AFR][1000 genomes]
rs73348823	0.89[AFR][1000 genomes]
rs7795191	0.85[ASN][1000 genomes]
rs7796500	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription 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	37 gene(s)	inside rSNPs	diseases
2	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv1020990	chr7:38257707-38503472	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv2757222	chr7:38294079-38418165	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv519863	chr7:38318590-38417556	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv1019941	chr7:38319437-38472680	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1031936	chr7:38319437-38503472	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic 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	31 gene(s)	inside rSNPs	diseases
12	nsv429745	chr7:38323485-38470561	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	30 gene(s)	inside rSNPs	diseases
13	nsv830965	chr7:38350614-38521047	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv1016350	chr7:38378718-38418165	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1021462	chr7:38384841-38418165	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv1032769	chr7:38384841-38418465	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38408200-38418000	Weak transcription	Pancreas	Pancrea
2	chr7:38409600-38423600	Weak transcription	Fetal Kidney	kidney
3	chr7:38409800-38421200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:38409800-38438600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:38410000-38420800	Strong transcription	Dnd41	blood
6	chr7:38410000-38421800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:38410000-38432800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:38410200-38419800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:38410200-38424400	Weak transcription	Fetal Intestine Large	intestine
10	chr7:38410400-38419200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:38410800-38422000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:38411200-38417600	Strong transcription	Primary T cells from cord blood	blood
13	chr7:38411200-38423200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:38411800-38417800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:38412200-38422600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:38413000-38428000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:38413200-38428400	Weak transcription	Spleen	Spleen
18	chr7:38413400-38421200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:38413400-38422000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:38413800-38418000	Strong transcription	K562	blood
21	chr7:38414000-38420600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:38414400-38438600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:38414600-38417200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:38414600-38417800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:38414600-38420200	Strong transcription	Thymus	Thymus
26	chr7:38414800-38420800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:38415000-38417200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr7:38415000-38417800	Strong transcription	Fetal Thymus	thymus
29	chr7:38415000-38420400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:38415200-38417600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:38415400-38422000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:38415800-38417600	Weak transcription	GM12878-XiMat	blood
33	chr7:38416000-38421200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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