Variant report

Variant	rs2032988
Chromosome Location	chr6:5407825-5407826
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10900967	0.94[EUR][1000 genomes]
rs12198170	0.86[EUR][1000 genomes]
rs1364556	0.81[EUR][1000 genomes]
rs1364557	0.82[EUR][1000 genomes]
rs1895645	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326610	0.85[EUR][1000 genomes]
rs2432766	0.81[EUR][1000 genomes]
rs2432771	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2432772	0.82[EUR][1000 genomes]
rs2503813	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6912109	0.80[EUR][1000 genomes]
rs9328299	0.85[EUR][1000 genomes]
rs9328300	0.85[EUR][1000 genomes]
rs9328301	0.85[EUR][1000 genomes]
rs9328302	0.85[EUR][1000 genomes]
rs9392681	0.80[EUR][1000 genomes]
rs9392682	0.81[EUR][1000 genomes]
rs9392686	0.86[EUR][1000 genomes]
rs9405265	0.81[EUR][1000 genomes]
rs9405268	0.85[EUR][1000 genomes]
rs9405831	0.81[EUR][1000 genomes]
rs9405832	0.84[EUR][1000 genomes]
rs9405833	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
2	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats 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 miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription 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	10 gene(s)	inside rSNPs	diseases
5	nsv830578	chr6:5264086-5455570	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1022738	chr6:5298362-5411645	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv883417	chr6:5307432-5431340	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv883418	chr6:5307432-5501389	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1015643	chr6:5311590-5452427	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1030744	chr6:5328012-5458222	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv1022505	chr6:5388025-5449240	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv5180	chr6:5389197-5434354	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5369400-5419800	Weak transcription	Aorta	Aorta
2	chr6:5369600-5417400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:5371000-5411400	Weak transcription	Ovary	ovary
4	chr6:5374400-5431400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:5395400-5431200	Weak transcription	Left Ventricle	heart
6	chr6:5399200-5415800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:5399200-5440000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:5402600-5408400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:5403000-5410400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:5403200-5412200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:5403200-5439800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:5403400-5408400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:5403400-5410200	Weak transcription	GM12878-XiMat	blood
14	chr6:5403400-5412400	Weak transcription	Brain Substantia Nigra	brain
15	chr6:5403400-5445200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:5403600-5411800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:5403600-5412400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:5403600-5418600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:5403600-5437600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:5403800-5410600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:5404000-5408400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr6:5404000-5410400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:5404200-5419800	Weak transcription	Dnd41	blood
24	chr6:5404400-5410800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr6:5404400-5411400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:5404400-5412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:5404400-5412600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:5404400-5412600	Weak transcription	HMEC	breast
29	chr6:5404600-5412400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:5404800-5408600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:5404800-5411200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:5404800-5428200	Weak transcription	Lung	lung
33	chr6:5405000-5408600	Weak transcription	Thymus	Thymus
34	chr6:5405200-5431000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:5405400-5439800	Weak transcription	Pancreas	Pancrea
36	chr6:5405600-5411200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:5405800-5409400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:5405800-5410400	Weak transcription	Fetal Kidney	kidney
39	chr6:5406600-5408000	Weak transcription	K562	blood
40	chr6:5406600-5412200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr6:5406600-5431400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr6:5406800-5410400	Weak transcription	HSMM	muscle
43	chr6:5406800-5417600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:5407000-5415800	Weak transcription	Fetal Stomach	stomach
45	chr6:5407000-5431000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:5407400-5439600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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