Variant report

Variant	rs73419799
Chromosome Location	chr7:104630083-104630084
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104622194-104631612	NONHSAT122589

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs56007018	1.00[AMR][1000 genomes]
rs56397729	1.00[AMR][1000 genomes]
rs57369490	1.00[AMR][1000 genomes]
rs57437921	1.00[AMR][1000 genomes]
rs57834400	1.00[AMR][1000 genomes]
rs58052615	1.00[AMR][1000 genomes]
rs58436549	1.00[AMR][1000 genomes]
rs58652912	1.00[AMR][1000 genomes]
rs58727441	1.00[AMR][1000 genomes]
rs59672048	1.00[AMR][1000 genomes]
rs59965211	1.00[AMR][1000 genomes]
rs60336509	1.00[AMR][1000 genomes]
rs60649764	1.00[AMR][1000 genomes]
rs60711291	1.00[AMR][1000 genomes]
rs60977282	1.00[AMR][1000 genomes]
rs61258714	1.00[AMR][1000 genomes]
rs73404009	1.00[AMR][1000 genomes]
rs73404010	1.00[AMR][1000 genomes]
rs73404019	1.00[AMR][1000 genomes]
rs73404022	1.00[AMR][1000 genomes]
rs73404030	1.00[AMR][1000 genomes]
rs73404039	1.00[AMR][1000 genomes]
rs73404052	1.00[AMR][1000 genomes]
rs73404060	1.00[AMR][1000 genomes]
rs73404066	1.00[AMR][1000 genomes]
rs73404071	1.00[AMR][1000 genomes]
rs73404094	1.00[AMR][1000 genomes]
rs73417640	1.00[AMR][1000 genomes]
rs73417643	1.00[AMR][1000 genomes]
rs73417647	1.00[AMR][1000 genomes]
rs73417652	1.00[AMR][1000 genomes]
rs73417661	1.00[AMR][1000 genomes]
rs73417662	1.00[AMR][1000 genomes]
rs73417667	1.00[AMR][1000 genomes]
rs73417669	1.00[AMR][1000 genomes]
rs73417674	1.00[AMR][1000 genomes]
rs73419733	1.00[AMR][1000 genomes]
rs73419738	1.00[AMR][1000 genomes]
rs73419746	1.00[AMR][1000 genomes]
rs73419748	1.00[AMR][1000 genomes]
rs73419776	1.00[AMR][1000 genomes]
rs73419784	1.00[AMR][1000 genomes]
rs73419801	1.00[AMR][1000 genomes]
rs73421715	1.00[AMR][1000 genomes]
rs73421732	1.00[AMR][1000 genomes]
rs73421755	1.00[AMR][1000 genomes]
rs73421758	1.00[AMR][1000 genomes]
rs73421762	1.00[AMR][1000 genomes]
rs73714148	1.00[AMR][1000 genomes]
rs73714170	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv526422	chr7:104618318-104632980	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2829879	chr7:104618318-104652671	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
6	nsv437561	chr7:104626690-104647571	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104625000-104631400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:104625000-104631400	Weak transcription	Spleen	Spleen
3	chr7:104625000-104633600	Weak transcription	Aorta	Aorta
4	chr7:104625000-104641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:104625000-104647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:104625200-104630600	Enhancers	Osteobl	bone
7	chr7:104625200-104631200	Enhancers	Liver	Liver
8	chr7:104625200-104643800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:104625400-104633200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:104625400-104643000	Weak transcription	Fetal Brain Female	brain
11	chr7:104625600-104631400	Weak transcription	Gastric	stomach
12	chr7:104625600-104636400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:104625800-104630200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr7:104625800-104630400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:104625800-104641200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:104626000-104630400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:104626200-104630200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:104626200-104636200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:104626200-104641600	Weak transcription	Brain Germinal Matrix	brain
20	chr7:104626400-104631200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:104626400-104639600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:104626600-104631400	Weak transcription	Adipose Nuclei	Adipose
23	chr7:104626800-104630400	Enhancers	Fetal Intestine Large	intestine
24	chr7:104626800-104631000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:104627000-104630800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr7:104627000-104632200	Genic enhancers	Fetal Intestine Small	intestine
27	chr7:104627000-104634200	Weak transcription	Brain Angular Gyrus	brain
28	chr7:104627000-104641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:104627200-104630600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:104627200-104631200	Weak transcription	Placenta	Placenta
31	chr7:104627200-104631400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:104627200-104638400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:104627400-104630600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:104627400-104631600	Weak transcription	K562	blood
35	chr7:104627400-104634000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:104627400-104634800	Weak transcription	Brain Substantia Nigra	brain
37	chr7:104627400-104643600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:104627800-104637600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:104628000-104631600	Enhancers	Stomach Mucosa	stomach
40	chr7:104628000-104632200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr7:104628200-104630800	Enhancers	Fetal Kidney	kidney
42	chr7:104628200-104631400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:104628200-104631400	Enhancers	HepG2	liver
44	chr7:104628200-104632000	Genic enhancers	NHDF-Ad	bronchial
45	chr7:104628400-104630200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:104628400-104630200	Enhancers	Stomach Smooth Muscle	stomach
47	chr7:104628400-104630400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:104628400-104630800	Enhancers	Duodenum Mucosa	Duodenum
49	chr7:104628400-104631400	Enhancers	Colon Smooth Muscle	Colon
50	chr7:104628400-104631400	Strong transcription	GM12878-XiMat	blood

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