Variant report

Variant	rs139613117
Chromosome Location	chr1:197167370-197167371
allele	-/ATTAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr1:197166714-197167569	K562	blood:	n/a	chr1:197167398-197167410

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197152680..197155309-chr1:197165847..197169413,3	MCF-7	breast:
2	chr1:197161517..197163826-chr1:197164890..197167674,2	K562	blood:
3	chr1:197153884..197156331-chr1:197167263..197169035,2	K562	blood:
4	chr1:197165634..197167836-chr1:197312237..197315122,2	K562	blood:
5	chr1:197165132..197167397-chr1:197181290..197183417,2	K562	blood:
6	chr1:197110180..197113762-chr1:197163844..197167381,3	K562	blood:
7	chr1:197114016..197117152-chr1:197163839..197167436,4	K562	blood:

No data

Variant related genes	Relation type
CRB1	TF binding region
ENSG00000066279	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv2445525	chr1:197167182-197168584	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:197125400-197168400	Weak transcription	Psoas Muscle	Psoas
3	chr1:197125600-197169600	Weak transcription	Esophagus	oesophagus
4	chr1:197126400-197169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:197152400-197168600	Weak transcription	Stomach Mucosa	stomach
6	chr1:197157400-197168400	Weak transcription	Left Ventricle	heart
7	chr1:197157400-197169400	Weak transcription	Colonic Mucosa	Colon
8	chr1:197157400-197169600	Weak transcription	Pancreas	Pancrea
9	chr1:197157600-197167600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:197159400-197169600	Weak transcription	Gastric	stomach
11	chr1:197159400-197169800	Weak transcription	Lung	lung
12	chr1:197159600-197167800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:197159600-197168600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:197159600-197169200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:197159600-197169800	Weak transcription	Spleen	Spleen
16	chr1:197159800-197168600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:197159800-197169600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:197160600-197169200	Weak transcription	Fetal Stomach	stomach
19	chr1:197161000-197167400	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:197161000-197168200	Weak transcription	Fetal Thymus	thymus
21	chr1:197161000-197169200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:197161000-197169400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:197161000-197169400	Weak transcription	Placenta	Placenta
24	chr1:197161200-197168600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:197161600-197168800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:197163400-197169400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:197163600-197168800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:197164000-197168600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:197164000-197168800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:197164000-197169200	Active TSS	GM12878-XiMat	blood
31	chr1:197164600-197168400	Enhancers	Hela-S3	cervix
32	chr1:197164800-197169400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:197165000-197169400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:197165600-197169200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:197166200-197167400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:197166200-197167600	Active TSS	Ovary	ovary
37	chr1:197166200-197170000	Flanking Active TSS	Dnd41	blood
38	chr1:197166400-197167600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr1:197166400-197168000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:197166400-197168400	Active TSS	Brain Anterior Caudate	brain
41	chr1:197166400-197168600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:197166400-197171400	Active TSS	K562	blood
43	chr1:197166400-197171600	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:197166400-197171600	Active TSS	Right Atrium	heart
45	chr1:197166600-197167600	Active TSS	Aorta	Aorta
46	chr1:197166600-197171600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:197166800-197167400	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr1:197166800-197167400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:197166800-197167400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr1:197166800-197167400	Flanking Active TSS	Fetal Kidney	kidney

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