Variant report

Variant	rs6876937
Chromosome Location	chr5:37247931-37247932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr5:37247861-37248168	U2OS	brain:	n/a	n/a
2	ZNF384	chr5:37247921-37247953	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37247385..37249387-chr5:37291319..37293555,2	MCF-7	breast:

Variant related genes	Relation type
C5orf42	TF binding region
RN7SL37P	TF binding region
ENSG00000113569	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55780492	1.00[AMR][1000 genomes]
rs59075952	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59763526	1.00[AMR][1000 genomes]
rs61745362	1.00[AMR][1000 genomes]
rs6859950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6864648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6886211	0.92[AFR][1000 genomes]
rs73750922	1.00[AMR][1000 genomes]
rs73750926	1.00[AMR][1000 genomes]
rs73750953	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7712558	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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

No data

Chromatin state (count:114 , 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	chr5:37225600-37248600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:37226800-37248000	Weak transcription	HepG2	liver
9	chr5:37227200-37248400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:37227400-37248400	Weak transcription	HMEC	breast
11	chr5:37227400-37248400	Weak transcription	NHLF	lung
12	chr5:37227400-37248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:37227800-37248600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:37233400-37248600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:37234000-37248600	Weak transcription	Esophagus	oesophagus
16	chr5:37234400-37248200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:37234400-37248400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:37235600-37248200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr5:37236400-37248200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:37236800-37248600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:37237200-37248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:37237600-37248600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:37237800-37248400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:37238400-37248200	Weak transcription	Psoas Muscle	Psoas
25	chr5:37238400-37248400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:37238400-37248600	Weak transcription	Aorta	Aorta
27	chr5:37238400-37248600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:37238800-37248000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:37238800-37248000	Weak transcription	Ovary	ovary
30	chr5:37238800-37248000	Weak transcription	Right Ventricle	heart
31	chr5:37239000-37248600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:37239200-37248600	Weak transcription	Liver	Liver
33	chr5:37240400-37248400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:37240600-37248600	Weak transcription	Small Intestine	intestine
35	chr5:37240800-37248000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr5:37240800-37248000	Weak transcription	Fetal Kidney	kidney
37	chr5:37240800-37248000	Weak transcription	Lung	lung
38	chr5:37240800-37248200	Weak transcription	Primary B cells from cord blood	blood
39	chr5:37240800-37248200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr5:37240800-37248600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:37241000-37248200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:37241000-37248400	Weak transcription	Brain Angular Gyrus	brain
43	chr5:37241200-37248600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:37242000-37248000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:37242000-37248400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:37242000-37248600	Weak transcription	Colonic Mucosa	Colon
47	chr5:37242600-37248000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:37242600-37248000	Weak transcription	Left Ventricle	heart
49	chr5:37243200-37248000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:37243200-37248000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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