Variant report

Variant	rs59806714
Chromosome Location	chr4:106138857-106138858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106137303..106138957-chr4:106155928..106157974,2	MCF-7	breast:
2	chr4:106067583..106069106-chr4:106137390..106139293,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168769	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10003144	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006632	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006721	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10008189	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10017522	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10018267	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10022126	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022891	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10023701	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10026237	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10027791	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10033325	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932794	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11938493	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11941838	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11943394	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944001	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944085	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505746	0.89[ASN][1000 genomes]
rs2017763	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28394039	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28655620	0.82[ASN][1000 genomes]
rs28707121	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3733609	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796927	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235413	0.92[ASN][1000 genomes]
rs55793049	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58862751	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59339947	0.95[ASN][1000 genomes]
rs60886348	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826102	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831247	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833560	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6835030	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839609	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843141	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6857812	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955167	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955198	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73836047	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73836048	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73836052	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73836055	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73838074	1.00[ASN][1000 genomes]
rs7662448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696287	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696337	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698398	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7698522	0.92[ASN][1000 genomes]
rs7700148	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs871215	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931653	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9985622	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9993497	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9998069	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106101000-106146600	Weak transcription	Spleen	Spleen
2	chr4:106106200-106155000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr4:106113000-106154800	Weak transcription	Fetal Thymus	thymus
4	chr4:106113200-106146600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr4:106113600-106173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:106113600-106195800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:106114400-106155200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:106114600-106145400	Weak transcription	Adipose Nuclei	Adipose
9	chr4:106114600-106155600	Weak transcription	Esophagus	oesophagus
10	chr4:106118000-106155400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:106118800-106155000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:106118800-106155200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:106127600-106146600	Weak transcription	Left Ventricle	heart
14	chr4:106127600-106155000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:106127600-106155400	Weak transcription	Placenta	Placenta
16	chr4:106127800-106144800	Weak transcription	Ovary	ovary
17	chr4:106127800-106145200	Weak transcription	Fetal Heart	heart
18	chr4:106127800-106155200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:106127800-106155200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:106128000-106154000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:106131800-106155000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:106132000-106153200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:106132400-106144800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:106132400-106146600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:106132400-106154600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:106132800-106141600	Weak transcription	Small Intestine	intestine
27	chr4:106133400-106155000	Weak transcription	Fetal Lung	lung
28	chr4:106133800-106155000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:106135200-106155000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:106135200-106155000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:106135800-106146600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:106136000-106145400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:106136000-106155000	Weak transcription	Fetal Stomach	stomach
34	chr4:106136000-106157400	Weak transcription	Right Ventricle	heart
35	chr4:106136200-106146600	Weak transcription	Psoas Muscle	Psoas
36	chr4:106136400-106141600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:106136400-106146800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:106136400-106155000	Weak transcription	Fetal Muscle Leg	muscle
39	chr4:106136800-106139000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr4:106136800-106139200	Enhancers	Fetal Intestine Large	intestine
41	chr4:106136800-106155200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:106137000-106139000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:106137000-106155200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:106137200-106144800	Weak transcription	Fetal Kidney	kidney
45	chr4:106137400-106144800	Weak transcription	Brain Substantia Nigra	brain
46	chr4:106137400-106155200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:106137600-106140000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr4:106137600-106142800	ZNF genes & repeats	GM12878-XiMat	blood
49	chr4:106137600-106145400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:106137600-106155000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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