Variant report

Variant	rs4493843
Chromosome Location	chr7:105094283-105094284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105093737..105097449-chr7:105099816..105103606,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17280048	1.00[MEX][hapmap]
rs3192850	0.94[EUR][1000 genomes]
rs4730087	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6466066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6466068	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6972417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73716788	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73716789	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7801837	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv888929	chr7:105012975-105163091	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv1018975	chr7:105018374-105153618	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
20	nsv539050	chr7:105018374-105153618	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
21	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
22	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
23	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105080000-105094400	Weak transcription	NHLF	lung
2	chr7:105080000-105108400	Weak transcription	Spleen	Spleen
3	chr7:105080000-105161200	Weak transcription	Pancreas	Pancrea
4	chr7:105080200-105104600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:105080200-105126800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:105086800-105098200	Weak transcription	Ovary	ovary
7	chr7:105087200-105098200	Weak transcription	Fetal Stomach	stomach
8	chr7:105087200-105101400	Weak transcription	Left Ventricle	heart
9	chr7:105087200-105102000	Weak transcription	Aorta	Aorta
10	chr7:105088200-105099000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:105088200-105142600	Weak transcription	Esophagus	oesophagus
12	chr7:105088200-105152800	Weak transcription	Gastric	stomach
13	chr7:105088400-105097200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:105088400-105140400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:105088800-105096200	Weak transcription	Dnd41	blood
16	chr7:105088800-105096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:105089000-105096200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:105089000-105096600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:105089200-105127000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:105089200-105142600	Weak transcription	Fetal Thymus	thymus
21	chr7:105089600-105145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:105089600-105145800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:105090000-105126800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:105090000-105128200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:105090800-105102000	Weak transcription	GM12878-XiMat	blood
26	chr7:105090800-105120200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:105091600-105094400	Enhancers	Primary B cells from peripheral blood	blood
28	chr7:105092000-105097600	Weak transcription	A549	lung
29	chr7:105092000-105097800	Weak transcription	Hela-S3	cervix
30	chr7:105092400-105095000	Enhancers	Primary B cells from cord blood	blood
31	chr7:105092600-105094400	Enhancers	Fetal Muscle Leg	muscle
32	chr7:105092600-105102000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:105092800-105094400	Enhancers	Fetal Muscle Trunk	muscle
34	chr7:105092800-105096600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:105092800-105096600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:105092800-105098200	Weak transcription	Psoas Muscle	Psoas
37	chr7:105093000-105094400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:105093000-105094400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:105093000-105095400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:105093000-105096000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr7:105093000-105096200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:105093200-105102000	Weak transcription	Primary T cells from cord blood	blood
43	chr7:105093200-105104400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:105093400-105112600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:105093600-105096200	Enhancers	HSMM	muscle
46	chr7:105093600-105097600	Weak transcription	Brain Germinal Matrix	brain
47	chr7:105093600-105101400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:105093600-105153000	Weak transcription	Small Intestine	intestine
49	chr7:105093800-105096000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:105093800-105102000	Weak transcription	Right Ventricle	heart

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