Variant report

Variant	rs73850028
Chromosome Location	chr4:129834347-129834348
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129834048..129836614-chr4:129837936..129840499,3	K562	blood:
2	chr4:129731039..129733137-chr4:129832126..129834778,3	K562	blood:
3	chr4:129834245..129836614-chr4:129838172..129840499,2	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs55707740	1.00[AMR][1000 genomes]
rs55714747	1.00[AMR][1000 genomes]
rs55753141	1.00[AMR][1000 genomes]
rs56002856	1.00[AMR][1000 genomes]
rs56017737	1.00[AMR][1000 genomes]
rs56069250	1.00[AMR][1000 genomes]
rs56721576	1.00[AMR][1000 genomes]
rs57056827	1.00[AMR][1000 genomes]
rs57243721	1.00[AMR][1000 genomes]
rs57542268	1.00[AMR][1000 genomes]
rs57925170	1.00[AMR][1000 genomes]
rs58701517	1.00[AMR][1000 genomes]
rs58799593	1.00[AMR][1000 genomes]
rs60005322	1.00[AMR][1000 genomes]
rs60227965	1.00[AMR][1000 genomes]
rs61700015	1.00[AMR][1000 genomes]
rs73846989	1.00[AMR][1000 genomes]
rs73846992	1.00[AMR][1000 genomes]
rs73846993	1.00[AMR][1000 genomes]
rs73846994	1.00[AMR][1000 genomes]
rs73846999	1.00[AMR][1000 genomes]
rs73847304	1.00[AMR][1000 genomes]
rs73847312	1.00[AMR][1000 genomes]
rs73847313	1.00[AMR][1000 genomes]
rs73847314	1.00[AMR][1000 genomes]
rs73847316	1.00[AMR][1000 genomes]
rs73847317	1.00[AMR][1000 genomes]
rs73847322	1.00[AMR][1000 genomes]
rs73847323	1.00[AMR][1000 genomes]
rs73847326	1.00[AMR][1000 genomes]
rs73847327	1.00[AMR][1000 genomes]
rs73847329	1.00[AMR][1000 genomes]
rs73847331	1.00[AMR][1000 genomes]
rs73847332	1.00[AMR][1000 genomes]
rs73847333	1.00[AMR][1000 genomes]
rs73847334	1.00[AMR][1000 genomes]
rs73847341	1.00[AMR][1000 genomes]
rs73847342	1.00[AMR][1000 genomes]
rs73847345	1.00[AMR][1000 genomes]
rs73847347	1.00[AMR][1000 genomes]
rs73847354	1.00[AMR][1000 genomes]
rs73847355	1.00[AMR][1000 genomes]
rs73847358	1.00[AMR][1000 genomes]
rs73847375	1.00[AMR][1000 genomes]
rs73847378	1.00[AMR][1000 genomes]
rs73847380	1.00[AMR][1000 genomes]
rs73847383	1.00[AMR][1000 genomes]
rs73847391	1.00[AMR][1000 genomes]
rs73847392	1.00[AMR][1000 genomes]
rs73847395	1.00[AMR][1000 genomes]
rs73847399	1.00[AMR][1000 genomes]
rs73848906	1.00[AMR][1000 genomes]
rs73848910	1.00[AMR][1000 genomes]
rs73848913	1.00[AMR][1000 genomes]
rs73850005	1.00[AMR][1000 genomes]
rs73850009	1.00[AMR][1000 genomes]
rs73850010	1.00[AMR][1000 genomes]
rs73850011	1.00[AMR][1000 genomes]
rs73850012	1.00[AMR][1000 genomes]
rs73850013	1.00[AMR][1000 genomes]
rs73850015	1.00[AMR][1000 genomes]
rs73850016	1.00[AMR][1000 genomes]
rs73850017	1.00[AMR][1000 genomes]
rs73850018	1.00[AMR][1000 genomes]
rs73850019	1.00[AMR][1000 genomes]
rs73850027	1.00[AMR][1000 genomes]
rs73850035	1.00[AMR][1000 genomes]
rs73850039	1.00[AMR][1000 genomes]
rs73850041	1.00[AMR][1000 genomes]
rs73850059	1.00[AMR][1000 genomes]
rs73850061	1.00[AMR][1000 genomes]
rs73850064	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	79 gene(s)	inside rSNPs	diseases
2	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv461637	chr4:129774375-129924977	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv595397	chr4:129774375-129924977	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv461638	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv595398	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv1018994	chr4:129775612-129933968	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv1034996	chr4:129777825-129905255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv537249	chr4:129777825-129905255	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv1022446	chr4:129778025-129905116	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv537250	chr4:129778025-129905116	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv1030296	chr4:129778025-129920680	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv537251	chr4:129778025-129920680	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
18	esv2830419	chr4:129785483-129905256	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
19	nsv533785	chr4:129785683-129857992	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	n/a
20	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv1026722	chr4:129801602-129929219	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv537252	chr4:129801602-129929219	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129793800-129907200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:129794400-129860200	Weak transcription	Thymus	Thymus
3	chr4:129810400-129847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:129810400-129847400	Weak transcription	Fetal Intestine Large	intestine
5	chr4:129810600-129847200	Weak transcription	Dnd41	blood
6	chr4:129810800-129838600	Weak transcription	Primary T cells from cord blood	blood
7	chr4:129812400-129834800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:129821400-129867800	Weak transcription	Fetal Intestine Small	intestine
9	chr4:129828600-129837400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:129829200-129849600	Weak transcription	Pancreas	Pancrea
11	chr4:129829800-129873000	Weak transcription	Brain Substantia Nigra	brain
12	chr4:129830200-129836400	Weak transcription	Small Intestine	intestine
13	chr4:129833000-129840000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr4:129833800-129834400	Enhancers	GM12878-XiMat	blood
15	chr4:129833800-129834800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:129833800-129835200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr4:129833800-129836400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:129833800-129848400	Weak transcription	Fetal Stomach	stomach
19	chr4:129834000-129834400	Weak transcription	Primary B cells from cord blood	blood
20	chr4:129834000-129834400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:129834000-129835200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr4:129834000-129835200	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:129834200-129835000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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