Variant report

Variant	rs541086319
Chromosome Location	chr1:228195747-228195748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228190036..228193608-chr1:228195528..228197492,3	MCF-7	breast:
2	chr1:228194854..228196535-chr1:228199538..228201142,2	MCF-7	breast:
3	chr1:228191215..228193545-chr1:228195515..228198090,2	MCF-7	breast:
4	chr1:228194958..228197764-chr1:228296157..228297740,2	K562	blood:
5	chr1:228193720..228196616-chr1:228296879..228298469,2	MCF-7	breast:
6	chr1:228195432..228198403-chr1:228200183..228201767,2	K562	blood:
7	chr1:228192379..228197446-chr1:228268248..228273367,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143761	Chromatin interaction
ENSG00000162910	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv947387	chr1:228140028-228206630	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv945349	chr1:228186556-228245135	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv826953	chr1:228191929-228196867	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	esv3345664	chr1:228193354-228196202	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3391367	chr1:228193679-228195777	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228192200-228196800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:228193400-228196600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:228193600-228196200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr1:228193800-228196800	Enhancers	Primary B cells from cord blood	blood
5	chr1:228194000-228196000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:228194000-228196000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:228194000-228196600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr1:228194200-228196600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:228194200-228197400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:228194400-228195800	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:228194600-228196000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:228194800-228195800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:228194800-228195800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr1:228194800-228196200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:228194800-228197200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr1:228195000-228195800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:228195000-228195800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:228195000-228195800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:228195000-228195800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:228195000-228195800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr1:228195000-228195800	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr1:228195000-228196200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:228195000-228196200	Bivalent Enhancer	Fetal Brain Male	brain
24	chr1:228195000-228196600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr1:228195000-228196800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr1:228195200-228195800	Bivalent/Poised TSS	Esophagus	oesophagus
27	chr1:228195200-228195800	Bivalent Enhancer	Lung	lung
28	chr1:228195200-228195800	Bivalent Enhancer	Right Ventricle	heart
29	chr1:228195200-228196000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr1:228195200-228197200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:228195200-228197200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:228195200-228197200	Bivalent Enhancer	Spleen	Spleen
33	chr1:228195200-228213200	Weak transcription	Right Atrium	heart
34	chr1:228195400-228195800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:228195400-228195800	Bivalent Enhancer	NHEK	skin
36	chr1:228195400-228196000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr1:228195400-228196000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:228195400-228196200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:228195400-228196200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
40	chr1:228195400-228196600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr1:228195600-228195800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
42	chr1:228195600-228195800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr1:228195600-228195800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:228195600-228195800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:228195600-228196000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr1:228195600-228196000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:228195600-228196000	Flanking Bivalent TSS/Enh	Placenta	Placenta
48	chr1:228195600-228196600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:228195600-228196800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:228195600-228197200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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