Variant report

Variant	rs4871379
Chromosome Location	chr8:124464621-124464622
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	chr8:124463936..124466421-chr8:124769993..124771838,2	K562	blood:
2	chr8:124464160..124465967-chr8:124466531..124468850,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10087527	0.90[EUR][1000 genomes]
rs10110826	0.91[EUR][1000 genomes]
rs10216826	0.90[EUR][1000 genomes]
rs10956129	0.91[EUR][1000 genomes]
rs12234925	0.90[EUR][1000 genomes]
rs35680076	0.80[EUR][1000 genomes]
rs3857958	0.86[AMR][1000 genomes]
rs4541891	0.90[EUR][1000 genomes]
rs4871375	0.90[EUR][1000 genomes]
rs4871376	0.90[EUR][1000 genomes]
rs4871381	0.81[EUR][1000 genomes]
rs6470148	0.90[EUR][1000 genomes]
rs6470151	0.90[EUR][1000 genomes]
rs7004908	0.87[EUR][1000 genomes]
rs7005105	0.90[EUR][1000 genomes]
rs7822727	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7838923	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9297669	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124430200-124472800	Weak transcription	Colonic Mucosa	Colon
2	chr8:124430200-124484600	Weak transcription	Psoas Muscle	Psoas
3	chr8:124445600-124465400	Weak transcription	Pancreas	Pancrea
4	chr8:124447600-124467800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:124449600-124490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:124451400-124489400	Weak transcription	Spleen	Spleen
7	chr8:124452000-124467400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:124453600-124464800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:124454000-124465000	Weak transcription	Brain Angular Gyrus	brain
10	chr8:124454000-124467400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:124454000-124467800	Weak transcription	Esophagus	oesophagus
12	chr8:124454000-124468200	Weak transcription	NHLF	lung
13	chr8:124454000-124472800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:124454000-124478400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:124454000-124489400	Weak transcription	Gastric	stomach
16	chr8:124454200-124465400	Weak transcription	Brain Substantia Nigra	brain
17	chr8:124454200-124465400	Weak transcription	HSMMtube	muscle
18	chr8:124454400-124467600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:124454400-124478200	Weak transcription	HSMM	muscle
20	chr8:124454400-124478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:124454400-124478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:124454600-124465200	Weak transcription	Placenta	Placenta
23	chr8:124454600-124467800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:124454600-124468400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:124454600-124477200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:124454600-124489000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:124454600-124489200	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:124455000-124466600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:124456200-124472400	Weak transcription	Fetal Intestine Small	intestine
30	chr8:124459000-124472400	Weak transcription	HUVEC	blood vessel
31	chr8:124459200-124465800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr8:124459200-124466000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr8:124459200-124466800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr8:124459200-124467000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:124459200-124468600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:124459200-124472200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:124459200-124473200	Weak transcription	HepG2	liver
38	chr8:124459200-124473800	Weak transcription	Primary B cells from cord blood	blood
39	chr8:124459400-124465200	Weak transcription	Hela-S3	cervix
40	chr8:124460400-124468400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:124460400-124468600	Weak transcription	Fetal Brain Female	brain
42	chr8:124460400-124472800	Weak transcription	Fetal Intestine Large	intestine
43	chr8:124460400-124472800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:124460400-124473000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:124460400-124478200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:124460600-124466000	Weak transcription	Liver	Liver
47	chr8:124461000-124465000	Weak transcription	Thymus	Thymus
48	chr8:124461000-124466400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:124461200-124465200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:124461200-124465400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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