Variant report

Variant	rs2894042
Chromosome Location	chr6:30607411-30607412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30603404..30605348-chr6:30605560..30609450,3	MCF-7	breast:
2	chr6:30600893..30602967-chr6:30606710..30608465,2	MCF-7	breast:
3	chr6:30584090..30585907-chr6:30604843..30607556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228415	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204569	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2006098	0.98[ASN][1000 genomes]
rs2517565	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2517566	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3094104	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73727455	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
8	nsv969376	chr6:30601427-30608408	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv884092	chr6:30604955-30617767	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv884093	chr6:30604955-30618906	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30593600-30613800	Weak transcription	Hela-S3	cervix
2	chr6:30595200-30609000	Weak transcription	Colonic Mucosa	Colon
3	chr6:30595400-30607800	Weak transcription	Right Ventricle	heart
4	chr6:30595400-30608200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:30595400-30608400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:30595400-30614000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:30595400-30614800	Weak transcription	Small Intestine	intestine
8	chr6:30595600-30608000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr6:30595600-30608200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:30595600-30608600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:30595600-30611000	Weak transcription	Primary B cells from cord blood	blood
12	chr6:30595600-30613000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:30595600-30613800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:30595600-30614200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr6:30595600-30614200	Strong transcription	Fetal Stomach	stomach
16	chr6:30595600-30614200	Weak transcription	Psoas Muscle	Psoas
17	chr6:30595600-30614400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:30595800-30608200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:30595800-30608800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:30595800-30613000	Strong transcription	Fetal Lung	lung
21	chr6:30595800-30613600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:30595800-30613600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:30595800-30614000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:30595800-30614200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:30596000-30613800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:30596000-30613800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:30596000-30614000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:30596000-30614000	Strong transcription	Fetal Muscle Leg	muscle
29	chr6:30596000-30614200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:30596200-30610600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:30596200-30611600	Strong transcription	Fetal Intestine Small	intestine
32	chr6:30596200-30612600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:30596200-30613600	Weak transcription	Fetal Heart	heart
34	chr6:30596200-30613600	Weak transcription	HUVEC	blood vessel
35	chr6:30596200-30614200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:30596200-30614200	Strong transcription	Fetal Brain Female	brain
37	chr6:30597000-30608000	Weak transcription	Fetal Brain Male	brain
38	chr6:30597800-30608200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:30598000-30607600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:30598000-30607600	Weak transcription	Fetal Kidney	kidney
41	chr6:30598000-30608000	Weak transcription	GM12878-XiMat	blood
42	chr6:30598800-30608200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:30599800-30608000	Weak transcription	K562	blood
44	chr6:30601400-30614200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:30601600-30608000	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:30601600-30608200	Weak transcription	Aorta	Aorta
47	chr6:30601600-30608200	Weak transcription	Lung	lung
48	chr6:30601600-30608200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:30601800-30607800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:30601800-30607800	Weak transcription	Primary hematopoietic stem cells	blood

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