Variant report

Variant	rs10505441
Chromosome Location	chr8:124790174-124790175
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr8:124789777-124790278	HL-60	blood:	n/a	chr8:124790033-124790046
2	SPI1	chr8:124789738-124790259	HL-60	blood:	n/a	chr8:124790033-124790046
3	POLR2A	chr8:124789444-124790368	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124789924..124791442-chr8:124814631..124817453,2	MCF-7	breast:
2	chr8:124785385..124787704-chr8:124789123..124792007,2	K562	blood:
3	chr8:124787182..124791355-chr8:124797732..124801371,3	K562	blood:
4	chr8:124427517..124430529-chr8:124788729..124791516,3	MCF-7	breast:

Variant related genes	Relation type
FAM91A1	TF binding region
ENSG00000156802	Chromatin interaction
ENSG00000156795	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11996113	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997211	1.00[EUR][1000 genomes]
rs16898743	1.00[EUR][1000 genomes]
rs16898756	1.00[EUR][1000 genomes]
rs16898765	1.00[EUR][1000 genomes]
rs16898849	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1975114	1.00[EUR][1000 genomes]
rs34792899	1.00[EUR][1000 genomes]
rs57418226	1.00[EUR][1000 genomes]
rs58056715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58826471	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58870794	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986577	1.00[EUR][1000 genomes]
rs6986749	1.00[EUR][1000 genomes]
rs6986773	1.00[EUR][1000 genomes]
rs7004529	1.00[EUR][1000 genomes]
rs7004798	1.00[EUR][1000 genomes]
rs7008452	1.00[EUR][1000 genomes]
rs73324246	1.00[EUR][1000 genomes]
rs7813635	1.00[EUR][1000 genomes]
rs7819852	1.00[EUR][1000 genomes]
rs7820119	1.00[EUR][1000 genomes]
rs7833145	1.00[EUR][1000 genomes]
rs7833197	1.00[EUR][1000 genomes]
rs7840250	1.00[EUR][1000 genomes]
rs9694473	1.00[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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr8:124781600-124790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:124781800-124796000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:124781800-124811200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:124782200-124791000	Weak transcription	Fetal Kidney	kidney
5	chr8:124782200-124807800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:124782600-124791200	Weak transcription	Esophagus	oesophagus
7	chr8:124782600-124791400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:124782600-124793600	Weak transcription	Lung	lung
9	chr8:124782600-124795800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:124782800-124797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:124783400-124791400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:124783400-124796000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:124783600-124790800	Weak transcription	Brain Germinal Matrix	brain
14	chr8:124783600-124794000	Weak transcription	Psoas Muscle	Psoas
15	chr8:124783600-124795200	Weak transcription	Aorta	Aorta
16	chr8:124783600-124797400	Weak transcription	Right Ventricle	heart
17	chr8:124783600-124808000	Weak transcription	Fetal Heart	heart
18	chr8:124785400-124815000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:124785600-124815000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
22	chr8:124786200-124803000	Strong transcription	HMEC	breast
23	chr8:124786200-124814400	Strong transcription	HSMM	muscle
24	chr8:124786200-124815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:124786200-124815400	Strong transcription	Dnd41	blood
26	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:124786400-124796200	Strong transcription	K562	blood
28	chr8:124786400-124805400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:124786400-124813800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:124786400-124815000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:124786400-124815200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:124786800-124801200	Strong transcription	HepG2	liver
34	chr8:124786800-124814600	Strong transcription	Placenta	Placenta
35	chr8:124787000-124790400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:124787000-124791400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:124787000-124792600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:124787000-124813800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:124787000-124816400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:124787000-124822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:124787400-124790200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:124787400-124790200	Strong transcription	Colon Smooth Muscle	Colon
44	chr8:124787400-124790200	Strong transcription	NHEK	skin
45	chr8:124787400-124792200	Strong transcription	HSMMtube	muscle
46	chr8:124787400-124814400	Strong transcription	A549	lung
47	chr8:124787600-124818800	Strong transcription	Liver	Liver
48	chr8:124787800-124791200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:124787800-124791200	Weak transcription	Brain Angular Gyrus	brain
50	chr8:124787800-124791200	Weak transcription	Brain Anterior Caudate	brain

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