Variant report

Variant	rs61739227
Chromosome Location	chr5:37212332-37212333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10491420	1.00[AMR][1000 genomes]
rs125684	0.85[AFR][1000 genomes]
rs150619	0.89[AFR][1000 genomes]
rs150620	0.85[AFR][1000 genomes]
rs150622	0.85[AFR][1000 genomes]
rs177811	0.89[AFR][1000 genomes]
rs216372	0.86[AFR][1000 genomes]
rs216373	0.85[AFR][1000 genomes]
rs216374	0.82[AFR][1000 genomes]
rs216375	0.89[AFR][1000 genomes]
rs216376	0.86[AFR][1000 genomes]
rs216378	0.85[AFR][1000 genomes]
rs216379	0.85[AFR][1000 genomes]
rs216381	0.85[AFR][1000 genomes]
rs216382	0.85[AFR][1000 genomes]
rs216383	0.85[AFR][1000 genomes]
rs216390	0.85[AFR][1000 genomes]
rs216391	0.85[AFR][1000 genomes]
rs216397	0.85[AFR][1000 genomes]
rs216399	0.81[AFR][1000 genomes]
rs216400	0.85[AFR][1000 genomes]
rs216401	0.85[AFR][1000 genomes]
rs217773	0.86[AFR][1000 genomes]
rs217774	0.86[AFR][1000 genomes]
rs217775	0.89[AFR][1000 genomes]
rs217779	0.85[AFR][1000 genomes]
rs217782	0.86[AFR][1000 genomes]
rs217783	0.89[AFR][1000 genomes]
rs217784	0.89[AFR][1000 genomes]
rs217785	0.89[AFR][1000 genomes]
rs217786	0.84[AFR][1000 genomes]
rs217791	0.89[AFR][1000 genomes]
rs217792	0.89[AFR][1000 genomes]
rs217796	0.89[AFR][1000 genomes]
rs217798	0.89[AFR][1000 genomes]
rs217800	0.85[AFR][1000 genomes]
rs217801	0.85[AFR][1000 genomes]
rs217815	0.85[AFR][1000 genomes]
rs217816	0.81[AFR][1000 genomes]
rs217824	0.85[AFR][1000 genomes]
rs217839	0.85[AFR][1000 genomes]
rs217852	0.85[AFR][1000 genomes]
rs217853	0.85[AFR][1000 genomes]
rs217854	0.85[AFR][1000 genomes]
rs217855	0.85[AFR][1000 genomes]
rs2548041	0.89[AFR][1000 genomes]
rs4869500	0.85[AFR][1000 genomes]
rs53429	0.89[AFR][1000 genomes]
rs56401	0.89[AFR][1000 genomes]
rs56402	0.89[AFR][1000 genomes]
rs56762878	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs594478	0.86[AFR][1000 genomes]
rs73750913	1.00[AMR][1000 genomes]
rs73750921	1.00[AMR][1000 genomes]
rs73750931	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750941	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750947	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750949	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750951	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750958	0.96[AFR][1000 genomes]
rs73750959	0.96[AFR][1000 genomes]
rs7706007	1.00[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	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	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv968904	chr5:37170434-37231344	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	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
22	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
23	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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37113600-37222200	Weak transcription	Psoas Muscle	Psoas
2	chr5:37166400-37213600	Weak transcription	HepG2	liver
3	chr5:37169600-37214600	Weak transcription	Fetal Heart	heart
4	chr5:37170400-37235600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
6	chr5:37172200-37225000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:37174000-37229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:37183600-37214800	Weak transcription	A549	lung
9	chr5:37184400-37214600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:37185200-37226000	Weak transcription	HMEC	breast
11	chr5:37186400-37220600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:37188000-37213400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:37190800-37221600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:37197800-37216000	Weak transcription	Pancreas	Pancrea
15	chr5:37197800-37217800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:37198400-37236200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:37198600-37226400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:37198600-37226400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:37198800-37214400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:37203200-37214600	Strong transcription	Dnd41	blood
21	chr5:37204200-37212400	Weak transcription	Fetal Brain Male	brain
22	chr5:37206000-37218200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:37208000-37215200	Strong transcription	Hela-S3	cervix
24	chr5:37208200-37214000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:37208200-37216400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:37208800-37214200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:37208800-37214800	Strong transcription	HSMMtube	muscle
28	chr5:37209200-37213200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr5:37209200-37213800	Strong transcription	Liver	Liver
30	chr5:37209400-37213600	Weak transcription	Fetal Kidney	kidney
31	chr5:37209400-37234800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:37209600-37212600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr5:37209600-37212600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:37209600-37212600	Weak transcription	Placenta	Placenta
35	chr5:37209600-37212800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:37209600-37213200	Strong transcription	Adipose Nuclei	Adipose
37	chr5:37209600-37213400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:37209600-37213600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:37209600-37213800	Strong transcription	Fetal Intestine Large	intestine
40	chr5:37209600-37214400	Weak transcription	Primary B cells from cord blood	blood
41	chr5:37209600-37214400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr5:37209600-37214400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr5:37209600-37214400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:37209600-37214400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr5:37209600-37214800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:37209600-37215200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr5:37209600-37216000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:37209600-37217200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:37209600-37220000	Weak transcription	HUVEC	blood vessel
50	chr5:37209600-37220800	Weak transcription	Primary T cells fromperipheralblood	blood

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