Variant report

Variant	rs73421710
Chromosome Location	chr7:104640206-104640207
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	chr7:104637895..104640816-chr7:105263916..105266780,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104637584-104654636	NONHSAT122594

Variant related genes	Relation type
ENSG00000146776	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs55638165	1.00[AMR][1000 genomes]
rs55715849	1.00[AMR][1000 genomes]
rs56162214	1.00[AMR][1000 genomes]
rs56361562	1.00[AMR][1000 genomes]
rs56890093	1.00[AMR][1000 genomes]
rs56966676	1.00[AMR][1000 genomes]
rs57051326	1.00[AMR][1000 genomes]
rs57160311	1.00[AMR][1000 genomes]
rs57402653	1.00[AMR][1000 genomes]
rs58404848	1.00[AMR][1000 genomes]
rs60436179	1.00[AMR][1000 genomes]
rs61102011	1.00[AMR][1000 genomes]
rs61285225	1.00[AMR][1000 genomes]
rs73421708	0.85[AFR][1000 genomes]
rs73715406	1.00[AMR][1000 genomes]
rs73715440	1.00[AMR][1000 genomes]
rs73715442	1.00[AMR][1000 genomes]
rs73715443	1.00[AMR][1000 genomes]
rs73715444	1.00[AMR][1000 genomes]
rs73715445	1.00[AMR][1000 genomes]
rs73716461	1.00[AMR][1000 genomes]
rs73716462	1.00[AMR][1000 genomes]
rs73716469	1.00[AMR][1000 genomes]
rs73716471	1.00[AMR][1000 genomes]
rs73717956	1.00[AMR][1000 genomes]
rs73717964	1.00[AMR][1000 genomes]
rs73718215	1.00[AMR][1000 genomes]
rs73718216	1.00[AMR][1000 genomes]
rs73718217	1.00[AMR][1000 genomes]
rs73718218	1.00[AMR][1000 genomes]
rs73718222	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	nsv437995	chr7:104632980-104641241	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1022083	chr7:104634376-104644391	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104625000-104641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:104625000-104647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:104625200-104643800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:104625400-104643000	Weak transcription	Fetal Brain Female	brain
5	chr7:104625800-104641200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:104626200-104641600	Weak transcription	Brain Germinal Matrix	brain
7	chr7:104627000-104641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:104627400-104643600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:104629800-104641200	Weak transcription	Colonic Mucosa	Colon
10	chr7:104630200-104641200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:104630800-104641600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:104630800-104643600	Weak transcription	Fetal Kidney	kidney
13	chr7:104631600-104643600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:104632000-104641200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:104632200-104640600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:104632200-104641200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:104632200-104641200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:104632200-104641200	Weak transcription	Esophagus	oesophagus
19	chr7:104632200-104641200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:104632200-104641200	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:104632200-104641200	Weak transcription	Gastric	stomach
22	chr7:104632200-104641200	Weak transcription	Pancreas	Pancrea
23	chr7:104632200-104641200	Weak transcription	Spleen	Spleen
24	chr7:104632800-104641200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:104632800-104641200	Weak transcription	Fetal Stomach	stomach
26	chr7:104632800-104641400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:104633000-104642600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:104633200-104643600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr7:104633400-104641400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr7:104633600-104650400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:104634000-104647200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:104634400-104641200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:104634400-104642800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr7:104634400-104642800	Weak transcription	HSMMtube	muscle
35	chr7:104634600-104640800	Weak transcription	Right Ventricle	heart
36	chr7:104634800-104641800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:104635000-104640600	Weak transcription	NHLF	lung
38	chr7:104635200-104642800	Weak transcription	NH-A	brain
39	chr7:104635400-104641400	Enhancers	Primary T cells from cord blood	blood
40	chr7:104635400-104641400	Weak transcription	Aorta	Aorta
41	chr7:104635400-104641800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:104635400-104642200	Weak transcription	Brain Substantia Nigra	brain
43	chr7:104635400-104643200	Weak transcription	HUVEC	blood vessel
44	chr7:104635600-104645600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr7:104635800-104641200	Weak transcription	Placenta	Placenta
46	chr7:104635800-104643400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:104636400-104641400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr7:104636400-104645400	Enhancers	Fetal Heart	heart
49	chr7:104636400-104649400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:104636600-104641800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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