Variant report

Variant	rs924211
Chromosome Location	chr8:104038155-104038156
allele	A/G
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	chr8:104038130-104038353	GM12878	blood:	n/a	chr8:104038218-104038231 chr8:104038218-104038231
2	SPI1	chr8:104038154-104038338	K562	blood:	n/a	chr8:104038218-104038231 chr8:104038218-104038231
3	GATA1	chr8:104036976-104038495	PBDE	blood:	n/a	n/a
4	SPI1	chr8:104038037-104038417	HL-60	blood:	n/a	chr8:104038218-104038231 chr8:104038218-104038231
5	SPI1	chr8:104038100-104038435	HL-60	blood:	n/a	chr8:104038218-104038231 chr8:104038218-104038231

No.	Distal block	Cell Line	Cell type
1	chr8:104037448..104042958-chr8:104046176..104050630,6	K562	blood:
2	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
3	chr8:103876488..103879465-chr8:104035828..104038329,2	K562	blood:
4	chr8:103875478..103878722-chr8:104036212..104039262,6	MCF-7	breast:
5	chr8:104037608..104039879-chr8:104049595..104051833,2	MCF-7	breast:
6	chr8:104036012..104039037-chr8:104044457..104047255,3	MCF-7	breast:
7	chr8:104036794..104039187-chr8:104043927..104046153,2	K562	blood:

Variant related genes	Relation type
ENSG00000254236	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1159227	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1398272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1473820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1512350	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1512352	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1512353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16870120	1.00[CHB][hapmap]
rs16870122	1.00[CHB][hapmap]
rs16870125	1.00[CHB][hapmap]
rs2017133	1.00[CEU][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2047374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132861	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132862	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132864	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132865	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132866	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2388374	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2453992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2453993	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454047	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458273	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458274	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458275	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458282	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458292	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458294	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515196	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515202	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515204	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2935587	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019160	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019164	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3019165	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133430	0.96[EUR][1000 genomes];0.94[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104034000-104043600	Weak transcription	Aorta	Aorta
2	chr8:104034200-104068800	Weak transcription	Small Intestine	intestine
3	chr8:104034400-104038200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr8:104034400-104043400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:104034400-104059400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:104034400-104069400	Weak transcription	Esophagus	oesophagus
7	chr8:104034600-104038200	Enhancers	K562	blood
8	chr8:104034600-104040600	Weak transcription	Stomach Mucosa	stomach
9	chr8:104034600-104043600	Weak transcription	Brain Substantia Nigra	brain
10	chr8:104034600-104050200	Weak transcription	Fetal Stomach	stomach
11	chr8:104034600-104053000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:104034600-104059800	Weak transcription	A549	lung
13	chr8:104034600-104063600	Weak transcription	HSMMtube	muscle
14	chr8:104034600-104068400	Weak transcription	Right Ventricle	heart
15	chr8:104034800-104042400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:104034800-104043000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:104034800-104048000	Weak transcription	NHDF-Ad	bronchial
18	chr8:104034800-104053000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:104034800-104054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:104034800-104054200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:104034800-104054400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:104034800-104058800	Weak transcription	HSMM	muscle
23	chr8:104034800-104058800	Weak transcription	NH-A	brain
24	chr8:104034800-104065600	Weak transcription	Fetal Kidney	kidney
25	chr8:104034800-104074600	Weak transcription	NHEK	skin
26	chr8:104035000-104042400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:104035200-104040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:104035200-104053200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:104035200-104054200	Weak transcription	Placenta	Placenta
30	chr8:104035400-104038200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:104035400-104038200	Weak transcription	Gastric	stomach
32	chr8:104035400-104040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:104035400-104040000	Weak transcription	Ovary	ovary
34	chr8:104035400-104040000	Weak transcription	Psoas Muscle	Psoas
35	chr8:104035400-104040400	Weak transcription	Pancreas	Pancrea
36	chr8:104035400-104042400	Weak transcription	Brain Anterior Caudate	brain
37	chr8:104035400-104042800	Weak transcription	Fetal Intestine Small	intestine
38	chr8:104035400-104043200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:104035400-104047800	Weak transcription	Lung	lung
40	chr8:104035400-104050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:104035400-104050200	Weak transcription	Left Ventricle	heart
42	chr8:104035400-104053000	Weak transcription	Fetal Intestine Large	intestine
43	chr8:104035400-104053600	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:104035400-104054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:104035400-104054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:104035400-104061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:104035400-104071200	Weak transcription	Brain Angular Gyrus	brain
48	chr8:104035600-104042400	Weak transcription	Primary B cells from cord blood	blood
49	chr8:104035600-104042800	Weak transcription	Hela-S3	cervix
50	chr8:104035600-104043600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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