Variant report

Variant	rs324731
Chromosome Location	chr4:76712418-76712419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10031352	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097112	0.87[AFR][1000 genomes]
rs11097117	0.94[ASN][1000 genomes]
rs11097121	0.94[ASN][1000 genomes]
rs11097122	0.90[AFR][1000 genomes]
rs11727895	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728073	0.90[AFR][1000 genomes]
rs11732850	0.80[ASN][1000 genomes]
rs11734358	0.87[ASN][1000 genomes]
rs11935073	0.94[ASN][1000 genomes]
rs12233780	0.94[ASN][1000 genomes]
rs12505147	0.92[ASN][1000 genomes]
rs12505149	0.87[AFR][1000 genomes]
rs12506101	0.92[ASN][1000 genomes]
rs12508200	0.84[ASN][1000 genomes]
rs12508992	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511212	0.94[ASN][1000 genomes]
rs12511575	0.91[ASN][1000 genomes]
rs13133144	0.80[AFR][1000 genomes]
rs13137229	0.80[ASN][1000 genomes]
rs13145290	0.90[AFR][1000 genomes]
rs16996019	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17000786	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17000794	0.94[ASN][1000 genomes]
rs17000864	0.94[ASN][1000 genomes]
rs186563	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2089253	0.94[ASN][1000 genomes]
rs2175640	0.84[ASN][1000 genomes]
rs2271472	0.90[AFR][1000 genomes]
rs28573275	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680723	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869175	0.82[AFR][1000 genomes]
rs324686	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324688	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324690	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324691	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324693	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324696	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324697	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324698	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324700	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324701	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324703	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324709	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs324712	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324713	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324719	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324722	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324723	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324727	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324730	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324733	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324735	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324738	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324740	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34855591	0.81[ASN][1000 genomes]
rs4262008	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859408	0.82[AFR][1000 genomes]
rs4859409	0.89[AFR][1000 genomes]
rs4859555	0.87[AFR][1000 genomes]
rs61603278	0.94[ASN][1000 genomes]
rs6531901	0.80[AFR][1000 genomes]
rs6531934	0.94[ASN][1000 genomes]
rs6822619	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6827016	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856162	0.94[ASN][1000 genomes]
rs72858061	0.94[ASN][1000 genomes]
rs7657198	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663617	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7680729	0.91[ASN][1000 genomes]
rs7684778	0.87[ASN][1000 genomes]
rs7693127	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
3	chr4:76671000-76739400	Weak transcription	Stomach Mucosa	stomach
4	chr4:76674800-76715200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:76675000-76727400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:76676400-76730600	Weak transcription	Spleen	Spleen
7	chr4:76677000-76736200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:76685800-76719200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:76685800-76738400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:76687600-76716200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:76688200-76738200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:76689400-76724000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:76691200-76713600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:76691200-76717000	Strong transcription	Placenta	Placenta
15	chr4:76691400-76715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:76691800-76716800	Strong transcription	Fetal Intestine Large	intestine
17	chr4:76692000-76717400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr4:76695000-76717200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:76697600-76734400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:76698000-76721600	Weak transcription	Brain Anterior Caudate	brain
21	chr4:76698000-76735400	Weak transcription	Small Intestine	intestine
22	chr4:76698800-76725000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:76699000-76725400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:76699200-76717400	Strong transcription	Liver	Liver
25	chr4:76699200-76724000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:76699400-76722600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:76701200-76725200	Weak transcription	Thymus	Thymus
28	chr4:76701800-76721800	Weak transcription	Colonic Mucosa	Colon
29	chr4:76702800-76714400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr4:76703400-76722800	Weak transcription	Psoas Muscle	Psoas
31	chr4:76704200-76722400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:76704800-76725200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:76705000-76730800	Weak transcription	Fetal Heart	heart
34	chr4:76705800-76721400	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:76705800-76725200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:76705800-76730600	Weak transcription	Fetal Brain Female	brain
37	chr4:76706000-76713000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:76706000-76713200	Weak transcription	Esophagus	oesophagus
39	chr4:76706000-76713400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:76706000-76722800	Weak transcription	Ovary	ovary
41	chr4:76706000-76730600	Weak transcription	Aorta	Aorta
42	chr4:76706000-76732000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:76706000-76732000	Weak transcription	Gastric	stomach
44	chr4:76706200-76725000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:76707000-76715200	Strong transcription	HSMMtube	muscle
46	chr4:76707200-76714400	Weak transcription	HepG2	liver
47	chr4:76707200-76715200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:76707200-76715800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:76707400-76715200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr4:76707600-76714600	Strong transcription	Dnd41	blood

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