Variant report

Variant	rs324729
Chromosome Location	chr4:76719384-76719385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76715216..76717144-chr4:76717984..76719951,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10031532	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13119659	0.94[AFR][1000 genomes]
rs28541901	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324687	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324694	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324702	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324704	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324705	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324710	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324720	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324734	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324736	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs324739	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55884734	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817228	0.83[EUR][1000 genomes]
rs6841486	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7691515	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][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:125 , 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	chr4:76675000-76727400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:76676400-76730600	Weak transcription	Spleen	Spleen
6	chr4:76677000-76736200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:76685800-76738400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:76688200-76738200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:76689400-76724000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:76697600-76734400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:76698000-76721600	Weak transcription	Brain Anterior Caudate	brain
12	chr4:76698000-76735400	Weak transcription	Small Intestine	intestine
13	chr4:76698800-76725000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:76699000-76725400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:76699200-76724000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:76699400-76722600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:76701200-76725200	Weak transcription	Thymus	Thymus
18	chr4:76701800-76721800	Weak transcription	Colonic Mucosa	Colon
19	chr4:76703400-76722800	Weak transcription	Psoas Muscle	Psoas
20	chr4:76704200-76722400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:76704800-76725200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:76705000-76730800	Weak transcription	Fetal Heart	heart
23	chr4:76705800-76721400	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:76705800-76725200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:76705800-76730600	Weak transcription	Fetal Brain Female	brain
26	chr4:76706000-76722800	Weak transcription	Ovary	ovary
27	chr4:76706000-76730600	Weak transcription	Aorta	Aorta
28	chr4:76706000-76732000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:76706000-76732000	Weak transcription	Gastric	stomach
30	chr4:76706200-76725000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:76707800-76738600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:76708400-76721400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:76708400-76725200	Weak transcription	Brain Hippocampus Middle	brain
34	chr4:76708400-76735400	Weak transcription	Right Ventricle	heart
35	chr4:76710400-76719800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:76710600-76721400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:76710800-76729400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:76711800-76721600	Weak transcription	Fetal Kidney	kidney
39	chr4:76711800-76729400	Weak transcription	Fetal Brain Male	brain
40	chr4:76711800-76729400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:76712000-76722400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr4:76712200-76721400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:76712200-76729600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:76712200-76730600	Weak transcription	Brain Angular Gyrus	brain
45	chr4:76712400-76720600	Weak transcription	NHEK	skin
46	chr4:76712400-76721400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:76712400-76721400	Weak transcription	K562	blood
48	chr4:76712400-76721600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:76712400-76722000	Weak transcription	Brain Substantia Nigra	brain
50	chr4:76712400-76725000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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