Variant report

Variant	rs2515194
Chromosome Location	chr8:104038305-104038306
allele	C/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	chr8:104038130-104038353	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
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13271522	0.82[YRI][hapmap]
rs1512348	0.82[CEU][hapmap];0.83[GIH][hapmap];0.84[MEX][hapmap]
rs1566158	0.82[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap]
rs1849339	0.86[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2047378	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048549	0.87[JPT][hapmap]
rs2048550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2270673	0.82[YRI][hapmap]
rs2458272	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2515174	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2515180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019163	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3779909	0.82[YRI][hapmap]
rs4147529	0.82[LWK][hapmap];0.82[YRI][hapmap]
rs4734684	0.82[YRI][hapmap]
rs515024	0.82[CEU][hapmap];0.80[GIH][hapmap];0.84[MEX][hapmap]
rs55801214	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs575524	0.82[CEU][hapmap]
rs600667	0.83[GIH][hapmap]
rs7013362	0.85[CEU][hapmap];0.95[CHB][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7816151	0.84[AMR][1000 genomes]
rs868936	0.80[YRI][hapmap]
rs9283939	0.82[YRI][hapmap]

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:103 , 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	chr8:104034400-104043400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:104034400-104059400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:104034400-104069400	Weak transcription	Esophagus	oesophagus
6	chr8:104034600-104040600	Weak transcription	Stomach Mucosa	stomach
7	chr8:104034600-104043600	Weak transcription	Brain Substantia Nigra	brain
8	chr8:104034600-104050200	Weak transcription	Fetal Stomach	stomach
9	chr8:104034600-104053000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:104034600-104059800	Weak transcription	A549	lung
11	chr8:104034600-104063600	Weak transcription	HSMMtube	muscle
12	chr8:104034600-104068400	Weak transcription	Right Ventricle	heart
13	chr8:104034800-104042400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:104034800-104043000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:104034800-104048000	Weak transcription	NHDF-Ad	bronchial
16	chr8:104034800-104053000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:104034800-104054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:104034800-104054200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:104034800-104054400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:104034800-104058800	Weak transcription	HSMM	muscle
21	chr8:104034800-104058800	Weak transcription	NH-A	brain
22	chr8:104034800-104065600	Weak transcription	Fetal Kidney	kidney
23	chr8:104034800-104074600	Weak transcription	NHEK	skin
24	chr8:104035000-104042400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:104035200-104040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:104035200-104053200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:104035200-104054200	Weak transcription	Placenta	Placenta
28	chr8:104035400-104040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:104035400-104040000	Weak transcription	Ovary	ovary
30	chr8:104035400-104040000	Weak transcription	Psoas Muscle	Psoas
31	chr8:104035400-104040400	Weak transcription	Pancreas	Pancrea
32	chr8:104035400-104042400	Weak transcription	Brain Anterior Caudate	brain
33	chr8:104035400-104042800	Weak transcription	Fetal Intestine Small	intestine
34	chr8:104035400-104043200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:104035400-104047800	Weak transcription	Lung	lung
36	chr8:104035400-104050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:104035400-104050200	Weak transcription	Left Ventricle	heart
38	chr8:104035400-104053000	Weak transcription	Fetal Intestine Large	intestine
39	chr8:104035400-104053600	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:104035400-104054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:104035400-104054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:104035400-104061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:104035400-104071200	Weak transcription	Brain Angular Gyrus	brain
44	chr8:104035600-104042400	Weak transcription	Primary B cells from cord blood	blood
45	chr8:104035600-104042800	Weak transcription	Hela-S3	cervix
46	chr8:104035600-104043600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:104035600-104050200	Weak transcription	Right Atrium	heart
48	chr8:104035600-104053000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:104035600-104053200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:104035600-104054200	Weak transcription	Primary T cells fromperipheralblood	blood

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