Variant report

Variant	rs284186
Chromosome Location	chr1:92234378-92234379
allele	A/G
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	GATA3	chr1:92234267-92234818	MCF-7	breast:	n/a	n/a
2	ESR1	chr1:92234320-92234677	ECC-1	luminal epithelium:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
3	ESR1	chr1:92234376-92234651	T-47D	breast:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
4	ESR1	chr1:92234291-92234665	ECC-1	luminal epithelium:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
5	ESR1	chr1:92234305-92234691	T-47D	breast:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553
6	ESR1	chr1:92234288-92234696	ECC-1	luminal epithelium:	n/a	chr1:92234510-92234525 chr1:92234509-92234526 chr1:92234538-92234553

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92231081..92233303-chr1:92233328..92236066,2	K562	blood:

Variant related genes	Relation type
TGFBR3	TF binding region
ENSG00000069702	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs284185	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs284190	0.81[ASN][1000 genomes]
rs284191	0.81[ASN][1000 genomes]
rs284192	0.81[ASN][1000 genomes]
rs284193	0.81[ASN][1000 genomes]
rs284194	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	esv988308	chr1:92227910-92236935	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3320420	chr1:92230064-92235262	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3502065	chr1:92230864-92234462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:92208400-92235800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:92211800-92235600	Weak transcription	Fetal Kidney	kidney
4	chr1:92213800-92235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:92216800-92241800	Weak transcription	Aorta	Aorta
6	chr1:92217800-92247800	Weak transcription	Small Intestine	intestine
7	chr1:92219400-92238200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:92220600-92255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:92221000-92248000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:92224400-92242800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:92224800-92234400	Weak transcription	Right Ventricle	heart
12	chr1:92225200-92235000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:92225400-92234400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:92225400-92241600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:92226600-92236400	Weak transcription	Brain Substantia Nigra	brain
16	chr1:92227000-92257200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:92227200-92234600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:92227200-92234800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:92227800-92235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:92228600-92235200	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:92229200-92241600	Weak transcription	Esophagus	oesophagus
22	chr1:92229400-92235200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:92230200-92234400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:92230200-92240800	Weak transcription	Right Atrium	heart
25	chr1:92230400-92234400	Weak transcription	Osteobl	bone
26	chr1:92230400-92234800	Weak transcription	Left Ventricle	heart
27	chr1:92230400-92242400	Weak transcription	Lung	lung
28	chr1:92230600-92235400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:92230600-92247800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:92231000-92234800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:92231000-92246800	Weak transcription	Hela-S3	cervix
32	chr1:92231200-92234400	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:92231200-92234400	Weak transcription	Fetal Stomach	stomach
34	chr1:92231200-92234400	Weak transcription	Psoas Muscle	Psoas
35	chr1:92231200-92234400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:92231200-92234400	Weak transcription	NHLF	lung
37	chr1:92231200-92234600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:92231200-92234600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:92231200-92234600	Weak transcription	Fetal Heart	heart
40	chr1:92231200-92234800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:92231200-92235000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:92231200-92235000	Weak transcription	Spleen	Spleen
43	chr1:92231200-92235400	Weak transcription	Adipose Nuclei	Adipose
44	chr1:92231200-92236400	Weak transcription	Fetal Lung	lung
45	chr1:92231200-92238200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:92231200-92240200	Weak transcription	Pancreas	Pancrea
47	chr1:92231400-92242600	Weak transcription	Stomach Mucosa	stomach
48	chr1:92232000-92234400	Weak transcription	K562	blood
49	chr1:92232200-92235000	Weak transcription	Ovary	ovary
50	chr1:92232400-92235400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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