Variant report

Variant	rs7654786
Chromosome Location	chr4:2863714-2863715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2859689..2861245-chr4:2862909..2865394,2	MCF-7	breast:
2	chr4:2844665..2847425-chr4:2860428..2864789,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087274	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1012365	0.80[ASN][1000 genomes]
rs1263342	0.80[ASN][1000 genomes]
rs1263344	0.80[ASN][1000 genomes]
rs12642795	0.84[ASN][1000 genomes]
rs16843452	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16843523	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2004973	0.81[ASN][1000 genomes]
rs2051560	0.83[ASN][1000 genomes]
rs2071695	0.83[ASN][1000 genomes]
rs2097081	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237004	0.83[ASN][1000 genomes]
rs2239728	0.83[ASN][1000 genomes]
rs2282772	0.82[ASN][1000 genomes]
rs2282773	0.83[ASN][1000 genomes]
rs2282774	0.83[ASN][1000 genomes]
rs2285084	0.83[ASN][1000 genomes]
rs3796469	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4690000	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4690001	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4690065	0.83[ASN][1000 genomes]
rs4961	0.83[ASN][1000 genomes]
rs4963	0.81[ASN][1000 genomes]
rs73082333	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73189448	0.91[EUR][1000 genomes]
rs73189458	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7664801	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv521858	chr4:2846799-2881256	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv524060	chr4:2850142-2881256	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2852000-2865800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:2856800-2863800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:2857000-2877000	Weak transcription	Dnd41	blood
4	chr4:2857200-2867600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:2857400-2870000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr4:2857400-2877600	Weak transcription	HMEC	breast
7	chr4:2857600-2867400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr4:2858200-2864800	Enhancers	Liver	Liver
9	chr4:2858400-2867200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr4:2858800-2865200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:2859000-2865200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr4:2859000-2865200	Enhancers	Fetal Muscle Leg	muscle
13	chr4:2859200-2869400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:2859400-2865000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:2859400-2865000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr4:2859400-2865400	Enhancers	HSMMtube	muscle
17	chr4:2859400-2865800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:2859400-2867200	Enhancers	Small Intestine	intestine
19	chr4:2859600-2864800	Enhancers	HUVEC	blood vessel
20	chr4:2859600-2865600	Enhancers	Adipose Nuclei	Adipose
21	chr4:2859600-2866000	Enhancers	Duodenum Mucosa	Duodenum
22	chr4:2859800-2864000	Enhancers	NHDF-Ad	bronchial
23	chr4:2859800-2864800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:2859800-2865000	Enhancers	Osteobl	bone
25	chr4:2859800-2865400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:2859800-2865600	Enhancers	Fetal Heart	heart
27	chr4:2859800-2866600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:2860000-2863800	Enhancers	GM12878-XiMat	blood
29	chr4:2860000-2864200	Enhancers	Rectal Smooth Muscle	rectum
30	chr4:2860000-2864600	Enhancers	Fetal Lung	lung
31	chr4:2860000-2864800	Enhancers	Colon Smooth Muscle	Colon
32	chr4:2860000-2865000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr4:2860000-2867400	Enhancers	Stomach Mucosa	stomach
34	chr4:2860200-2863800	Enhancers	Psoas Muscle	Psoas
35	chr4:2860200-2864200	Enhancers	Brain Hippocampus Middle	brain
36	chr4:2860200-2864400	Enhancers	Primary T cells from cord blood	blood
37	chr4:2860200-2864600	Enhancers	Colonic Mucosa	Colon
38	chr4:2860400-2864800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:2860400-2865000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:2860600-2863800	Weak transcription	Fetal Thymus	thymus
41	chr4:2860600-2867200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr4:2860600-2869200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:2860800-2864200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:2860800-2865200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr4:2860800-2869400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr4:2860800-2871000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:2861000-2866600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr4:2861200-2864800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:2861200-2865400	Enhancers	HSMM	muscle
50	chr4:2861400-2863800	Enhancers	Fetal Stomach	stomach

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