Variant report

Variant	rs73068474
Chromosome Location	chr5:37394436-37394437
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:37392088..37394720-chr5:37398631..37400477,2	K562	blood:
2	chr5:37370064..37373071-chr5:37393227..37395634,3	K562	blood:
3	chr5:37389025..37391631-chr5:37392336..37394905,2	K562	blood:

Variant related genes	Relation type
ENSG00000113569	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs16903524	1.00[AMR][1000 genomes]
rs16903527	1.00[AMR][1000 genomes]
rs16903598	1.00[AMR][1000 genomes]
rs16903600	1.00[AMR][1000 genomes]
rs16903603	1.00[AMR][1000 genomes]
rs16903604	1.00[AMR][1000 genomes]
rs16903613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34243761	1.00[AMR][1000 genomes]
rs57564262	1.00[AMR][1000 genomes]
rs59150742	1.00[AMR][1000 genomes]
rs59289853	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59775401	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59938294	1.00[AMR][1000 genomes]
rs59956868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60505985	1.00[AMR][1000 genomes]
rs60609972	1.00[AMR][1000 genomes]
rs60854599	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60866810	1.00[AMR][1000 genomes]
rs61235304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61421708	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61561054	1.00[AMR][1000 genomes]
rs61732654	1.00[AMR][1000 genomes]
rs6864055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6878467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73066405	1.00[AMR][1000 genomes]
rs73068410	1.00[AMR][1000 genomes]
rs73068415	1.00[AMR][1000 genomes]
rs73068449	1.00[AMR][1000 genomes]
rs73068487	1.00[AFR][1000 genomes]
rs73070406	1.00[AMR][1000 genomes]
rs73070409	1.00[AMR][1000 genomes]
rs73070411	1.00[AMR][1000 genomes]
rs73070497	1.00[AMR][1000 genomes]
rs73072214	1.00[AMR][1000 genomes]
rs73072281	1.00[AMR][1000 genomes]
rs73072296	1.00[AMR][1000 genomes]
rs73074108	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73074115	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095736	1.00[AMR][1000 genomes]
rs73095753	1.00[AMR][1000 genomes]
rs73095756	1.00[AMR][1000 genomes]
rs7720731	1.00[AMR][1000 genomes]
rs7727395	1.00[AMR][1000 genomes]
rs7727585	1.00[AMR][1000 genomes]
rs7727710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728924	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 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	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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

No data

Chromatin state (count:120 , 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	chr5:37380000-37396000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:37380000-37396400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:37380000-37399800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:37380000-37400800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:37380000-37405400	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:37380000-37427800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:37380000-37428200	Weak transcription	Stomach Mucosa	stomach
10	chr5:37380000-37443400	Weak transcription	Colonic Mucosa	Colon
11	chr5:37380200-37396400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:37380200-37396800	Weak transcription	Brain Substantia Nigra	brain
13	chr5:37380200-37400600	Weak transcription	Psoas Muscle	Psoas
14	chr5:37380200-37420400	Weak transcription	NHDF-Ad	bronchial
15	chr5:37380200-37432600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:37380200-37435000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:37380200-37446800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:37380200-37446800	Weak transcription	Fetal Brain Male	brain
19	chr5:37380200-37451200	Weak transcription	Right Ventricle	heart
20	chr5:37380400-37434800	Weak transcription	NHLF	lung
21	chr5:37382200-37396400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:37383000-37396800	Weak transcription	Spleen	Spleen
23	chr5:37385400-37396000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:37385800-37395000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:37386000-37395600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:37389600-37399200	Strong transcription	Fetal Intestine Large	intestine
27	chr5:37389800-37420000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:37390200-37428600	Weak transcription	HMEC	breast
29	chr5:37391000-37395000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:37391000-37398800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:37391000-37411600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:37391400-37394600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:37391400-37394800	Strong transcription	K562	blood
34	chr5:37391400-37395200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:37391400-37395800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:37391400-37396800	Strong transcription	Hela-S3	cervix
37	chr5:37391400-37397600	Strong transcription	Dnd41	blood
38	chr5:37391400-37398200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr5:37391400-37401000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:37391400-37401200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:37391400-37401200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:37391400-37401200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr5:37391600-37395200	Strong transcription	HSMMtube	muscle
44	chr5:37391600-37395400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:37391600-37396600	Strong transcription	Primary B cells from cord blood	blood
46	chr5:37391600-37397600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr5:37391600-37397600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:37391600-37398000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:37391600-37399200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:37391600-37399200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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