Variant report

Variant	rs73750958
Chromosome Location	chr5:37244669-37244670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:37230434..37232617-chr5:37243518..37246467,2	K562	blood:
2	chr5:37244268..37246209-chr5:37246679..37250816,3	MCF-7	breast:
3	chr5:37231083..37232617-chr5:37243518..37245919,2	K562	blood:
4	chr5:37244319..37247437-chr5:37248031..37251100,3	MCF-7	breast:
5	chr5:37242850..37244799-chr5:37268818..37270992,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197603	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10056350	1.00[AMR][1000 genomes]
rs10941328	1.00[AMR][1000 genomes]
rs10941335	1.00[AMR][1000 genomes]
rs125684	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs150619	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs150620	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs150622	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs177811	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2056872	1.00[AMR][1000 genomes]
rs216372	0.90[AFR][1000 genomes]
rs216373	0.89[AFR][1000 genomes]
rs216374	0.86[AFR][1000 genomes]
rs216375	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216376	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216378	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216379	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216381	0.89[AFR][1000 genomes]
rs216382	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216383	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216384	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216390	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216391	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216397	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216399	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216400	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216401	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217773	0.90[AFR][1000 genomes]
rs217774	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217775	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217779	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217782	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217783	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217784	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217785	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217786	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217791	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217792	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217796	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217798	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217800	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217801	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217815	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217816	0.85[AFR][1000 genomes]
rs217824	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217839	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217852	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217853	0.89[AFR][1000 genomes]
rs217854	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217855	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2366173	1.00[AMR][1000 genomes]
rs2548041	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2886592	1.00[AMR][1000 genomes]
rs4869500	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4869502	1.00[AMR][1000 genomes]
rs4869510	1.00[AMR][1000 genomes]
rs53429	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56401	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56402	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs594478	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59948566	1.00[AMR][1000 genomes]
rs61739227	0.96[AFR][1000 genomes]
rs6451315	1.00[AMR][1000 genomes]
rs6889826	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6890019	1.00[AMR][1000 genomes]
rs73749012	1.00[AMR][1000 genomes]
rs73750941	0.84[AFR][1000 genomes]
rs73750947	0.83[AFR][1000 genomes]
rs73750949	0.87[AFR][1000 genomes]
rs73750951	0.89[AFR][1000 genomes]
rs73750959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750960	0.80[AFR][1000 genomes]
rs7706007	0.96[AFR][1000 genomes]
rs7715310	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7729149	1.00[AMR][1000 genomes]
rs9292654	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking 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	43 gene(s)	inside rSNPs	diseases
13	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
16	nsv880406	chr5:37173930-37345270	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS 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	41 gene(s)	inside rSNPs	diseases
18	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
19	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
20	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
21	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
22	esv3358042	chr5:37232244-37251247	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv881512	chr5:37239240-37364693	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
24	nsv880817	chr5:37239240-37465126	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
25	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
26	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
27	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
28	esv3363546	chr5:37243045-37244943	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
2	chr5:37209600-37248000	Weak transcription	Gastric	stomach
3	chr5:37209600-37248400	Weak transcription	NHEK	skin
4	chr5:37215000-37248400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:37215200-37248200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:37216600-37248000	Weak transcription	Pancreas	Pancrea
7	chr5:37224200-37247200	Weak transcription	HUVEC	blood vessel
8	chr5:37225600-37248600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:37226800-37248000	Weak transcription	HepG2	liver
10	chr5:37227200-37248400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:37227400-37248400	Weak transcription	HMEC	breast
12	chr5:37227400-37248400	Weak transcription	NHLF	lung
13	chr5:37227400-37248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:37227800-37246200	Weak transcription	NH-A	brain
15	chr5:37227800-37248600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:37232800-37245000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:37233400-37248600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:37234000-37248600	Weak transcription	Esophagus	oesophagus
19	chr5:37234400-37248200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:37234400-37248400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:37235000-37247200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:37235200-37244800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:37235400-37245000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:37235600-37245000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:37235600-37248200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr5:37236400-37248200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr5:37236800-37248600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:37237000-37245000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:37237200-37247200	Weak transcription	GM12878-XiMat	blood
30	chr5:37237200-37248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:37237600-37245000	Weak transcription	Fetal Brain Male	brain
32	chr5:37237600-37245600	Weak transcription	Fetal Heart	heart
33	chr5:37237600-37248600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:37237800-37245000	Strong transcription	Fetal Intestine Small	intestine
35	chr5:37237800-37248400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr5:37238200-37247400	Weak transcription	A549	lung
37	chr5:37238400-37245000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:37238400-37247200	Weak transcription	Brain Substantia Nigra	brain
39	chr5:37238400-37247600	Weak transcription	Primary T cells from cord blood	blood
40	chr5:37238400-37248200	Weak transcription	Psoas Muscle	Psoas
41	chr5:37238400-37248400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:37238400-37248600	Weak transcription	Aorta	Aorta
43	chr5:37238400-37248600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:37238800-37247400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:37238800-37248000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:37238800-37248000	Weak transcription	Ovary	ovary
47	chr5:37238800-37248000	Weak transcription	Right Ventricle	heart
48	chr5:37239000-37244800	Strong transcription	Hela-S3	cervix
49	chr5:37239000-37246200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:37239000-37248600	Weak transcription	Rectal Mucosa Donor 29	rectum

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