Variant report

Variant	rs10078741
Chromosome Location	chr5:37414309-37414310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10051872	1.00[CEU][hapmap]
rs10053094	1.00[CEU][hapmap]
rs10063001	1.00[CEU][hapmap]
rs10067278	1.00[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10070203	1.00[EUR][1000 genomes]
rs10070367	1.00[CEU][hapmap]
rs10071032	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10072326	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs10077819	1.00[CEU][hapmap]
rs10472286	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs10473048	1.00[MEX][hapmap]
rs10491332	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs11739318	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[AMR][1000 genomes]
rs11742290	1.00[CEU][hapmap]
rs11955258	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs12109225	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs12186464	1.00[CEU][hapmap]
rs13160250	1.00[CEU][hapmap]
rs13175777	1.00[CEU][hapmap]
rs13355660	0.84[AMR][1000 genomes]
rs1554969	1.00[CEU][hapmap]
rs16903599	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs16903615	1.00[CEU][hapmap]
rs16903667	1.00[CEU][hapmap]
rs16903675	1.00[CEU][hapmap]
rs16903689	1.00[CEU][hapmap]
rs2366172	1.00[CEU][hapmap]
rs28429963	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs28558891	0.83[EUR][1000 genomes]
rs4074950	1.00[CEU][hapmap]
rs4242249	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs4334908	1.00[CEU][hapmap]
rs4370304	1.00[CEU][hapmap]
rs4407651	1.00[CEU][hapmap]
rs4449561	1.00[CEU][hapmap]
rs475517	1.00[CEU][hapmap]
rs4869431	1.00[CEU][hapmap]
rs4869432	0.93[AMR][1000 genomes]
rs4869434	0.86[AMR][1000 genomes]
rs4869506	0.93[AMR][1000 genomes]
rs4869508	0.86[AMR][1000 genomes]
rs587641	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs6451317	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap]
rs6451318	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs6860757	1.00[CEU][hapmap]
rs6868108	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6868843	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs6869205	1.00[CEU][hapmap]
rs6876447	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes]
rs6880699	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6888597	1.00[CEU][hapmap]
rs6892443	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6895753	1.00[CEU][hapmap]
rs6898035	0.84[AMR][1000 genomes]
rs6898900	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7703638	1.00[CEU][hapmap]
rs7703670	1.00[CEU][hapmap]
rs7704548	1.00[CEU][hapmap]
rs7724308	1.00[CEU][hapmap]
rs7725018	1.00[CEU][hapmap]
rs7725049	1.00[CEU][hapmap]
rs7730242	1.00[MEX][hapmap]
rs7732929	1.00[CEU][hapmap]
rs7733418	1.00[CEU][hapmap]
rs7735454	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs8180378	1.00[CEU][hapmap]
rs9292657	1.00[MEX][hapmap]
rs9292661	1.00[CEU][hapmap]
rs9292663	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	nsv597844	chr5:37287836-37567851	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv881076	chr5:37294473-37479198	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv1028058	chr5:37302941-37581735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv537728	chr5:37302941-37581735	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv1028054	chr5:37331852-37586211	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
27	nsv537730	chr5:37331852-37586211	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
28	nsv1030797	chr5:37335832-37445040	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
29	nsv471012	chr5:37349895-37545998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
30	nsv597845	chr5:37369958-37556926	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
31	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
32	nsv968167	chr5:37405093-37418064	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
34	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
35	nsv1015514	chr5:37409579-37522074	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37379800-37434200	Weak transcription	Small Intestine	intestine
2	chr5:37379800-37444400	Weak transcription	Gastric	stomach
3	chr5:37380000-37427800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:37380000-37428200	Weak transcription	Stomach Mucosa	stomach
5	chr5:37380000-37443400	Weak transcription	Colonic Mucosa	Colon
6	chr5:37380200-37420400	Weak transcription	NHDF-Ad	bronchial
7	chr5:37380200-37432600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:37380200-37435000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:37380200-37446800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:37380200-37446800	Weak transcription	Fetal Brain Male	brain
11	chr5:37380200-37451200	Weak transcription	Right Ventricle	heart
12	chr5:37380400-37434800	Weak transcription	NHLF	lung
13	chr5:37389800-37420000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:37390200-37428600	Weak transcription	HMEC	breast
15	chr5:37393200-37416800	Weak transcription	NHEK	skin
16	chr5:37393200-37419000	Weak transcription	HUVEC	blood vessel
17	chr5:37393200-37427200	Weak transcription	Esophagus	oesophagus
18	chr5:37393200-37451400	Weak transcription	Pancreas	Pancrea
19	chr5:37394800-37431800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:37395000-37428800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:37395400-37447000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:37396200-37426000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:37396200-37429000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:37396400-37427200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:37396600-37424400	Weak transcription	Fetal Lung	lung
26	chr5:37396800-37454600	Weak transcription	A549	lung
27	chr5:37397200-37416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:37397200-37417400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:37397200-37417400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:37397200-37419000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:37397200-37425200	Weak transcription	Spleen	Spleen
32	chr5:37397200-37446600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:37397600-37424200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:37397600-37426000	Weak transcription	Ovary	ovary
35	chr5:37398000-37424400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:37398400-37417400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:37398600-37423800	Weak transcription	Lung	lung
38	chr5:37399800-37417000	Weak transcription	Brain Germinal Matrix	brain
39	chr5:37400800-37415400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:37401000-37436200	Weak transcription	K562	blood
41	chr5:37401000-37454000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:37401200-37428400	Weak transcription	Psoas Muscle	Psoas
43	chr5:37401200-37452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:37401400-37436000	Weak transcription	GM12878-XiMat	blood
45	chr5:37404800-37423000	Weak transcription	Fetal Heart	heart
46	chr5:37406200-37416400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:37406200-37427000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:37406200-37451800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:37406400-37446800	Weak transcription	Brain Substantia Nigra	brain
50	chr5:37406600-37416800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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