Variant report

Variant	rs6777997
Chromosome Location	chr3:121508285-121508286
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:121507997..121509959-chr3:121529040..121530668,2	K562	blood:
2	chr3:121465792..121467849-chr3:121506947..121509810,2	MCF-7	breast:
3	chr3:121506516..121509256-chr3:121552587..121555250,2	MCF-7	breast:
4	chr3:121503081..121505086-chr3:121506757..121508419,2	MCF-7	breast:
5	chr3:121506422..121509070-chr8:140207889..140210242,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173226	Chromatin interaction
ENSG00000145088	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59002131	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59740137	0.85[AFR][1000 genomes]
rs6438660	0.85[AFR][1000 genomes]
rs6794015	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv829703	chr3:121383290-121534493	Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516233	chr3:121419301-121670405	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv877383	chr3:121465220-121650736	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv432483	chr3:121488995-121629634	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv33139	chr3:121500400-122091831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6777997	EAF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121486200-121526600	Weak transcription	Stomach Mucosa	stomach
2	chr3:121486800-121532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:121487000-121509000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:121487400-121512200	Strong transcription	Fetal Thymus	thymus
5	chr3:121487400-121512400	Strong transcription	Dnd41	blood
6	chr3:121487800-121509000	Strong transcription	Fetal Intestine Large	intestine
7	chr3:121487800-121516400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:121487800-121519000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr3:121488000-121511000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:121488000-121512200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:121488000-121512600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:121488400-121509600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:121488600-121509000	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:121488600-121510200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr3:121488600-121517800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr3:121489000-121509200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr3:121489800-121508800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:121489800-121510600	Weak transcription	Spleen	Spleen
19	chr3:121489800-121514800	Weak transcription	Small Intestine	intestine
20	chr3:121489800-121529800	Weak transcription	Aorta	Aorta
21	chr3:121490000-121529800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:121490000-121529800	Weak transcription	Pancreas	Pancrea
23	chr3:121491600-121552600	Weak transcription	NHLF	lung
24	chr3:121494200-121509200	Strong transcription	Primary B cells from cord blood	blood
25	chr3:121494200-121510600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:121494200-121544200	Weak transcription	Fetal Brain Male	brain
27	chr3:121494400-121512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:121494400-121518800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:121494400-121530000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:121494800-121516000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:121498000-121509000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:121498000-121510200	Strong transcription	Primary hematopoietic stem cells	blood
33	chr3:121498400-121509200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:121498600-121509000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:121500200-121515800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:121500200-121524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:121500200-121541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:121500400-121511600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:121500600-121528200	Weak transcription	Brain Angular Gyrus	brain
40	chr3:121501200-121511000	Weak transcription	K562	blood
41	chr3:121501200-121524000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr3:121501400-121529800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:121502200-121509000	Strong transcription	Fetal Lung	lung
44	chr3:121503200-121509600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:121503600-121509000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr3:121503600-121509000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr3:121503600-121509000	Strong transcription	HSMM	muscle
48	chr3:121503600-121509800	Strong transcription	Liver	Liver
49	chr3:121503800-121508600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr3:121503800-121508600	Strong transcription	GM12878-XiMat	blood

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