Variant report

Variant	rs140991189
Chromosome Location	chr7:140156908-140156909
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	FOXA1	chr7:140156632-140157029	HepG2	liver:	n/a	chr7:140156979-140156991 chr7:140156840-140156852 chr7:140156844-140156856
2	FOXA2	chr7:140156639-140156953	HepG2	liver:	n/a	chr7:140156840-140156852 chr7:140156844-140156856
3	POLR2A	chr7:140156761-140157236	K562	blood:	n/a	n/a
4	FOXA1	chr7:140156662-140156974	HepG2	liver:	n/a	chr7:140156840-140156852 chr7:140156844-140156856
5	FOXA1	chr7:140156606-140157039	HepG2	liver:	n/a	chr7:140156979-140156991 chr7:140156840-140156852 chr7:140156844-140156856

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140147282..140150132-chr7:140156885..140159416,3	K562	blood:
2	chr7:140155139..140157555-chr7:140177850..140179410,2	K562	blood:

Variant related genes	Relation type
MKRN1	TF binding region
ENSG00000133606	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464734	chr7:140108096-140217670	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv608500	chr7:140108096-140217670	Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
3	esv1803443	chr7:140146694-140263109	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv1795451	chr7:140155800-140163131	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140126400-140176600	Weak transcription	Right Atrium	heart
2	chr7:140150800-140171800	Strong transcription	Fetal Thymus	thymus
3	chr7:140151000-140171600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:140151000-140171600	Strong transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:140151000-140173400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:140151200-140160600	Weak transcription	Stomach Mucosa	stomach
7	chr7:140151200-140161800	Strong transcription	Placenta	Placenta
8	chr7:140151200-140171600	Strong transcription	Adipose Nuclei	Adipose
9	chr7:140151200-140172200	Strong transcription	Fetal Stomach	stomach
10	chr7:140151400-140157200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:140151400-140161000	Strong transcription	Primary B cells from cord blood	blood
12	chr7:140151400-140162400	Strong transcription	Thymus	Thymus
13	chr7:140151400-140163600	Strong transcription	Primary T cells from cord blood	blood
14	chr7:140151400-140171800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr7:140151400-140172200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:140151600-140157800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:140151600-140172200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:140151800-140172200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:140151800-140176600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:140152200-140157600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:140152200-140159000	Strong transcription	Left Ventricle	heart
22	chr7:140152200-140163000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr7:140152200-140163000	Strong transcription	Fetal Muscle Leg	muscle
24	chr7:140152200-140171400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:140152200-140172000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:140152200-140172000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:140152200-140172000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:140152200-140172200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr7:140152400-140163400	Strong transcription	Dnd41	blood
30	chr7:140152400-140166400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr7:140152400-140171600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:140152400-140171600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr7:140152400-140171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:140152400-140172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:140152600-140159000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:140152600-140159200	Strong transcription	NHDF-Ad	bronchial
37	chr7:140152600-140159800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:140152600-140161400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:140152600-140165800	Strong transcription	Spleen	Spleen
40	chr7:140152600-140167400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:140152600-140171800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:140152600-140171800	Strong transcription	K562	blood
43	chr7:140152600-140172200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:140152800-140159400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:140152800-140161800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr7:140152800-140171600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:140153000-140157000	Strong transcription	Brain Anterior Caudate	brain
48	chr7:140153000-140158000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr7:140153000-140159000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:140153200-140163600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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