Variant report

Variant	rs436611
Chromosome Location	chr4:76705779-76705780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76704931..76708571-chr4:76709075..76713501,5	K562	blood:
2	chr4:76705586..76707502-chr4:76725352..76727838,2	K562	blood:
3	chr4:76683893..76685556-chr4:76704376..76707290,2	K562	blood:
4	chr4:76683893..76686994-chr4:76703855..76707290,3	K562	blood:

Variant related genes	Relation type
ENSG00000138768	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10009902	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10010519	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10014281	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10025315	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10028884	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029110	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11097070	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11729258	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11736474	0.82[EUR][1000 genomes]
rs13116639	0.84[EUR][1000 genomes]
rs13118426	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13119659	0.88[ASN][1000 genomes]
rs13133699	0.80[EUR][1000 genomes]
rs13137468	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13138717	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1546539	0.84[EUR][1000 genomes]
rs1548175	0.84[EUR][1000 genomes]
rs1553984	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1553986	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1967495	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1967496	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs226416	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280095	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2869174	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324682	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324683	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324685	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324689	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324692	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324695	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324707	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324708	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324711	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324715	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324716	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324717	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324718	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324721	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324724	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324725	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324737	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34385808	0.84[EUR][1000 genomes]
rs3796473	0.82[EUR][1000 genomes]
rs3796485	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3853183	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3853184	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3942252	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4349625	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs443952	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859403	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4859542	0.80[EUR][1000 genomes]
rs4859543	0.84[EUR][1000 genomes]
rs4859544	0.80[EUR][1000 genomes]
rs4859545	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4859546	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4859547	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4859548	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4859550	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5020591	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6419115	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531841	0.84[EUR][1000 genomes]
rs6531866	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6531867	0.83[EUR][1000 genomes]
rs6531868	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6531889	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6531902	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6531903	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67474106	0.82[EUR][1000 genomes]
rs6826858	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6827809	0.86[EUR][1000 genomes]
rs6835702	0.84[EUR][1000 genomes]
rs6835819	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6842216	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6855321	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6855960	0.85[EUR][1000 genomes]
rs72651313	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7356270	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7356310	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7657871	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7659408	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7662940	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7672378	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7674063	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7674328	0.80[EUR][1000 genomes]
rs7677150	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7685459	0.80[EUR][1000 genomes]
rs7691385	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7691765	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7696241	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7698393	0.91[EUR][1000 genomes];0.82[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:126 , 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	chr4:76671600-76707800	Weak transcription	Right Ventricle	heart
5	chr4:76674800-76715200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:76675000-76727400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:76676400-76730600	Weak transcription	Spleen	Spleen
8	chr4:76677000-76710200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:76677000-76736200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:76685800-76719200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:76685800-76738400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr4:76687600-76716200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:76688200-76738200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:76689400-76706400	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr4:76689400-76724000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:76689600-76705800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:76689800-76709200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:76691200-76713600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:76691200-76717000	Strong transcription	Placenta	Placenta
20	chr4:76691400-76715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:76691600-76706000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr4:76691600-76706400	Strong transcription	Osteobl	bone
23	chr4:76691600-76707200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr4:76691600-76710000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:76691600-76710400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:76691800-76708600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:76691800-76716800	Strong transcription	Fetal Intestine Large	intestine
28	chr4:76692000-76706000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr4:76692000-76706000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:76692000-76706200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:76692000-76709800	Strong transcription	Fetal Thymus	thymus
32	chr4:76692000-76717400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr4:76692400-76708600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:76694800-76706600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr4:76695000-76708400	Strong transcription	HSMM	muscle
36	chr4:76695000-76717200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:76695200-76706000	Strong transcription	Fetal Muscle Leg	muscle
38	chr4:76695200-76709200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:76695400-76705800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:76695400-76706400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:76695400-76706400	Strong transcription	Adipose Nuclei	Adipose
42	chr4:76695800-76705800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:76695800-76706000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:76695800-76706400	Strong transcription	Fetal Lung	lung
45	chr4:76697600-76734400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr4:76698000-76711400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr4:76698000-76711600	Weak transcription	Brain Angular Gyrus	brain
48	chr4:76698000-76721600	Weak transcription	Brain Anterior Caudate	brain
49	chr4:76698000-76735400	Weak transcription	Small Intestine	intestine
50	chr4:76698600-76711400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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