Variant report

Variant	rs2048549
Chromosome Location	chr8:104036135-104036136
allele	G/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	ZNF384	chr8:104035969-104036284	K562	blood:	n/a	n/a
2	MAFF	chr8:104035977-104036314	HepG2	liver:	n/a	chr8:104036112-104036130 chr8:104036154-104036172 chr8:104036153-104036167
3	JUND	chr8:104035850-104036180	K562	blood:	n/a	chr8:104036134-104036143
4	MAFK	chr8:104035977-104036342	HepG2	liver:	n/a	chr8:104036158-104036172 chr8:104036155-104036170 chr8:104036115-104036124 chr8:104036152-104036168 chr8:104036160-104036171 chr8:104036116-104036130 chr8:104036153-104036167 chr8:104036160-104036171 chr8:104036155-104036171 chr8:104036159-104036170 chr8:104036117-104036128 chr8:104036150-104036170 chr8:104036117-104036128 chr8:104036159-104036170
5	MAFF	chr8:104035941-104036346	K562	blood:	n/a	chr8:104036112-104036130 chr8:104036154-104036172 chr8:104036153-104036167
6	MAFK	chr8:104035991-104036315	HepG2	liver:	n/a	chr8:104036158-104036172 chr8:104036155-104036170 chr8:104036115-104036124 chr8:104036152-104036168 chr8:104036160-104036171 chr8:104036116-104036130 chr8:104036153-104036167 chr8:104036160-104036171 chr8:104036155-104036171 chr8:104036159-104036170 chr8:104036117-104036128 chr8:104036150-104036170 chr8:104036117-104036128 chr8:104036159-104036170
7	BACH1	chr8:104035943-104036392	K562	blood:	n/a	n/a
8	MAFK	chr8:104035928-104036344	K562	blood:	n/a	chr8:104036158-104036172 chr8:104036155-104036170 chr8:104036115-104036124 chr8:104036152-104036168 chr8:104036160-104036171 chr8:104036116-104036130 chr8:104036153-104036167 chr8:104036160-104036171 chr8:104036155-104036171 chr8:104036159-104036170 chr8:104036117-104036128 chr8:104036150-104036170 chr8:104036117-104036128 chr8:104036159-104036170

No.	Distal block	Cell Line	Cell type
1	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
2	chr8:103876488..103879465-chr8:104035828..104038329,2	K562	blood:
3	chr8:104036012..104039037-chr8:104044457..104047255,3	MCF-7	breast:
4	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10092124	0.81[CEU][hapmap]
rs11777066	0.85[CEU][hapmap];0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs11985451	0.85[CEU][hapmap];0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs1913025	0.81[CEU][hapmap]
rs2047378	0.87[JPT][hapmap]
rs2048550	0.87[JPT][hapmap]
rs2515174	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515180	0.87[JPT][hapmap]
rs2515192	0.87[JPT][hapmap]
rs2515194	0.87[JPT][hapmap]
rs3019163	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4373497	0.81[CEU][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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104033800-104036600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr8:104034000-104043600	Weak transcription	Aorta	Aorta
3	chr8:104034200-104036400	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:104034200-104038000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:104034200-104068800	Weak transcription	Small Intestine	intestine
6	chr8:104034400-104036200	Enhancers	Fetal Thymus	thymus
7	chr8:104034400-104036400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:104034400-104036600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr8:104034400-104037400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:104034400-104037800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:104034400-104038200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr8:104034400-104043400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:104034400-104059400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:104034400-104069400	Weak transcription	Esophagus	oesophagus
15	chr8:104034600-104036200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:104034600-104036200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:104034600-104036200	Enhancers	Liver	Liver
18	chr8:104034600-104036200	Enhancers	Colon Smooth Muscle	Colon
19	chr8:104034600-104036800	Enhancers	Primary hematopoietic stem cells	blood
20	chr8:104034600-104036800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:104034600-104037600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr8:104034600-104038200	Enhancers	K562	blood
23	chr8:104034600-104040600	Weak transcription	Stomach Mucosa	stomach
24	chr8:104034600-104043600	Weak transcription	Brain Substantia Nigra	brain
25	chr8:104034600-104050200	Weak transcription	Fetal Stomach	stomach
26	chr8:104034600-104053000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:104034600-104059800	Weak transcription	A549	lung
28	chr8:104034600-104063600	Weak transcription	HSMMtube	muscle
29	chr8:104034600-104068400	Weak transcription	Right Ventricle	heart
30	chr8:104034800-104036200	Enhancers	Fetal Brain Male	brain
31	chr8:104034800-104036400	Enhancers	HepG2	liver
32	chr8:104034800-104036800	Enhancers	Adipose Nuclei	Adipose
33	chr8:104034800-104036800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:104034800-104036800	Weak transcription	Fetal Brain Female	brain
35	chr8:104034800-104037400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:104034800-104037400	Weak transcription	Fetal Heart	heart
37	chr8:104034800-104037800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:104034800-104038000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:104034800-104042400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:104034800-104043000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:104034800-104048000	Weak transcription	NHDF-Ad	bronchial
42	chr8:104034800-104053000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:104034800-104054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:104034800-104054200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:104034800-104054400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:104034800-104058800	Weak transcription	HSMM	muscle
47	chr8:104034800-104058800	Weak transcription	NH-A	brain
48	chr8:104034800-104065600	Weak transcription	Fetal Kidney	kidney
49	chr8:104034800-104074600	Weak transcription	NHEK	skin
50	chr8:104035000-104042400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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