Variant report

Variant	rs10941321
Chromosome Location	chr5:37213350-37213351
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10061157	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10073054	0.91[CEU][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10079030	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10461976	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10461977	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10473040	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12516313	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs125682	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs12652882	0.83[ASN][1000 genomes]
rs12658479	0.85[ASN][1000 genomes]
rs13179942	0.84[ASN][1000 genomes]
rs150621	0.80[EUR][1000 genomes]
rs16903531	0.83[ASN][1000 genomes]
rs2098713	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs216380	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs216385	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs216386	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs216387	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs216389	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs216393	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs216396	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs217781	0.82[EUR][1000 genomes]
rs217838	0.87[CEU][hapmap]
rs217840	0.88[CEU][hapmap]
rs2366274	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs301863	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs301867	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs301869	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs301872	0.88[EUR][1000 genomes]
rs301873	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs301874	0.82[EUR][1000 genomes]
rs301878	0.82[EUR][1000 genomes]
rs301906	0.82[EUR][1000 genomes]
rs301908	0.82[EUR][1000 genomes]
rs301909	0.82[EUR][1000 genomes]
rs6451313	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6860727	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6886108	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6887958	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7711452	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7715883	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7729404	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7735138	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][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	chr5:37206000-37218200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:37208000-37215200	Strong transcription	Hela-S3	cervix
23	chr5:37208200-37214000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:37208200-37216400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:37208800-37214200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:37208800-37214800	Strong transcription	HSMMtube	muscle
27	chr5:37209200-37213800	Strong transcription	Liver	Liver
28	chr5:37209400-37213600	Weak transcription	Fetal Kidney	kidney
29	chr5:37209400-37234800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:37209600-37213400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:37209600-37213600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:37209600-37213800	Strong transcription	Fetal Intestine Large	intestine
33	chr5:37209600-37214400	Weak transcription	Primary B cells from cord blood	blood
34	chr5:37209600-37214400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr5:37209600-37214400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:37209600-37214400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:37209600-37214400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:37209600-37214800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:37209600-37215200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr5:37209600-37216000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:37209600-37217200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:37209600-37220000	Weak transcription	HUVEC	blood vessel
43	chr5:37209600-37220800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr5:37209600-37222600	Weak transcription	Brain Angular Gyrus	brain
45	chr5:37209600-37223800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:37209600-37224000	Strong transcription	Fetal Muscle Leg	muscle
47	chr5:37209600-37226600	Weak transcription	NHLF	lung
48	chr5:37209600-37233400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:37209600-37239800	Weak transcription	Small Intestine	intestine
50	chr5:37209600-37240200	Weak transcription	Colonic Mucosa	Colon

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