Variant report

Variant	rs73728972
Chromosome Location	chr6:31682734-31682735
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28399973	1.00[AMR][1000 genomes]
rs35537518	1.00[AMR][1000 genomes]
rs57541574	1.00[AFR][1000 genomes]
rs73728952	1.00[AFR][1000 genomes]
rs73728965	1.00[AFR][1000 genomes]
rs73728969	1.00[AFR][1000 genomes]
rs73728976	1.00[AMR][1000 genomes]
rs7769899	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
12	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
13	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31671800-31695800	Weak transcription	Right Atrium	heart
2	chr6:31672000-31682800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:31672000-31685400	Weak transcription	Gastric	stomach
4	chr6:31677600-31683600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:31678400-31683200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr6:31678400-31684200	Enhancers	Fetal Brain Male	brain
7	chr6:31679200-31683600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:31679200-31687800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:31679400-31691200	Weak transcription	Primary B cells from cord blood	blood
10	chr6:31680000-31683600	Enhancers	Fetal Thymus	thymus
11	chr6:31680200-31685200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:31680400-31683200	Enhancers	Fetal Intestine Large	intestine
13	chr6:31680400-31683400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:31680400-31685400	Weak transcription	Pancreas	Pancrea
15	chr6:31680800-31685200	Weak transcription	NHEK	skin
16	chr6:31681000-31682800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:31681000-31683000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:31681000-31683000	Flanking Active TSS	Fetal Brain Female	brain
19	chr6:31681200-31682800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:31681200-31683000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:31681200-31683000	Enhancers	Fetal Intestine Small	intestine
22	chr6:31681200-31683200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:31681200-31683600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:31681400-31683000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:31681400-31683600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:31681400-31683600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:31681400-31683800	Enhancers	Fetal Muscle Leg	muscle
28	chr6:31681600-31683000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:31681600-31683000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:31681600-31683400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:31681600-31683600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:31681600-31683600	Enhancers	Esophagus	oesophagus
33	chr6:31681600-31683600	Enhancers	Placenta	Placenta
34	chr6:31681600-31683800	Enhancers	Primary hematopoietic stem cells	blood
35	chr6:31681600-31684000	Enhancers	Fetal Lung	lung
36	chr6:31681800-31683000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:31681800-31683400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:31681800-31683800	Enhancers	Fetal Muscle Trunk	muscle
39	chr6:31682000-31685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:31682000-31685400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:31682000-31692800	Weak transcription	HSMMtube	muscle
42	chr6:31682000-31693800	Weak transcription	Fetal Kidney	kidney
43	chr6:31682200-31683600	Enhancers	Brain Germinal Matrix	brain
44	chr6:31682200-31683600	Enhancers	Colon Smooth Muscle	Colon
45	chr6:31682200-31683600	Enhancers	Fetal Stomach	stomach
46	chr6:31682200-31685200	Weak transcription	Colonic Mucosa	Colon
47	chr6:31682200-31685200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr6:31682200-31685600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr6:31682200-31685800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:31682200-31693400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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