Variant report

Variant	rs540014962
Chromosome Location	chr1:228122369-228122370
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228120545..228123784-chr1:228127076..228130229,4	K562	blood:
2	chr1:228120999..228125449-chr1:228127251..228129340,4	MCF-7	breast:
3	chr1:228116517..228118419-chr1:228120867..228123021,2	K562	blood:
4	chr1:228083548..228086316-chr1:228121354..228124098,2	MCF-7	breast:
5	chr1:228120602..228123082-chr1:228127538..228129867,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264483	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv873251	chr1:228051234-228160911	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv826942	chr1:228118930-228124889	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1837581	chr1:228122234-228127227	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228098800-228122800	Weak transcription	HSMMtube	muscle
2	chr1:228099400-228122400	Weak transcription	HSMM	muscle
3	chr1:228107800-228134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:228109600-228132000	Weak transcription	Gastric	stomach
5	chr1:228109800-228134000	Weak transcription	Right Atrium	heart
6	chr1:228111000-228129800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:228116400-228122800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:228117000-228123600	Weak transcription	Fetal Stomach	stomach
9	chr1:228118000-228125400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:228118000-228126000	Weak transcription	Esophagus	oesophagus
11	chr1:228118200-228124400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:228118400-228124600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:228118400-228133000	Weak transcription	Ovary	ovary
14	chr1:228119000-228128000	Weak transcription	Pancreas	Pancrea
15	chr1:228120400-228122400	Weak transcription	A549	lung
16	chr1:228120600-228124800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:228121000-228132600	Weak transcription	Fetal Intestine Small	intestine
18	chr1:228121200-228123400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:228121400-228124600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:228121600-228122400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:228121600-228122400	Enhancers	Adipose Nuclei	Adipose
22	chr1:228121600-228122600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:228121600-228123000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:228121800-228122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:228121800-228123200	Enhancers	Colon Smooth Muscle	Colon
26	chr1:228121800-228123400	Enhancers	Fetal Muscle Leg	muscle
27	chr1:228121800-228123400	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:228121800-228124800	Enhancers	Placenta	Placenta
29	chr1:228121800-228128200	Weak transcription	Psoas Muscle	Psoas
30	chr1:228122000-228123200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:228122200-228122600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr1:228122200-228122600	ZNF genes & repeats	NHEK	skin
33	chr1:228122200-228123800	ZNF genes & repeats	HMEC	breast

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