Variant report

Variant	rs553266069
Chromosome Location	chr1:227975314-227975315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227966135..227968360-chr1:227973552..227975937,2	MCF-7	breast:
2	chr1:227973990..227976500-chr1:228134426..228136462,3	MCF-7	breast:
3	chr1:227967943..227969824-chr1:227975075..227977321,2	K562	blood:
4	chr1:227973508..227976414-chr1:228271906..228274660,2	K562	blood:
5	chr1:227945394..227947244-chr1:227973849..227976801,2	MCF-7	breast:
6	chr1:227962656..227964965-chr1:227972636..227975785,3	MCF-7	breast:
7	chr1:227970937..227973164-chr1:227974338..227975949,2	K562	blood:
8	chr1:227960240..227967392-chr1:227972741..227977657,8	K562	blood:
9	chr1:227921116..227924283-chr1:227974450..227977412,3	MCF-7	breast:
10	chr1:227974881..227977726-chr20:49346280..49347834,2	MCF-7	breast:
11	chr1:227973847..227976813-chr1:228134403..228136465,4	MCF-7	breast:
12	chr1:227974795..227976825-chr1:227979678..227981441,2	MCF-7	breast:
13	chr1:227970651..227973164-chr1:227973342..227975838,2	K562	blood:
14	chr1:227974971..227975949-chr1:228089646..228090423,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143740	Chromatin interaction
ENSG00000081692	Chromatin interaction
ENSG00000143816	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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv468238	chr1:227935762-228045748	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv549272	chr1:227935762-228045748	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	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
11	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
12	esv3441420	chr1:227974754-227977302	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv3380731	chr1:227975029-227977177	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227970600-227975400	Weak transcription	K562	blood
2	chr1:227973600-227975800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr1:227973600-227975800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr1:227974000-227975400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr1:227974400-227975600	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr1:227974400-227975600	Flanking Bivalent TSS/Enh	HepG2	liver
7	chr1:227974600-227975400	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr1:227974600-227975600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:227974600-227975600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:227974600-227975600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr1:227974600-227975800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:227974600-227977000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:227974800-227975400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:227974800-227975400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:227974800-227975400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:227974800-227975400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:227974800-227975400	Flanking Active TSS	Fetal Heart	heart
18	chr1:227974800-227975400	Flanking Active TSS	Spleen	Spleen
19	chr1:227974800-227975600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:227974800-227975600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr1:227974800-227975600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr1:227974800-227975600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:227974800-227975600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr1:227974800-227975600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr1:227974800-227975600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr1:227974800-227975600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
27	chr1:227974800-227975600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:227974800-227975600	Flanking Active TSS	HMEC	breast
29	chr1:227974800-227975600	Flanking Active TSS	HSMMtube	muscle
30	chr1:227974800-227975800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:227974800-227975800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr1:227974800-227975800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
33	chr1:227974800-227975800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:227974800-227975800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:227974800-227975800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:227974800-227975800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:227974800-227975800	Flanking Active TSS	Liver	Liver
38	chr1:227974800-227975800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr1:227974800-227975800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr1:227974800-227975800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr1:227974800-227975800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr1:227974800-227975800	Flanking Active TSS	HSMM	muscle
43	chr1:227974800-227976800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:227974800-227977000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr1:227974800-227977200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr1:227974800-227977200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr1:227974800-227977400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:227975000-227975400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr1:227975000-227975400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:227975000-227975400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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