Variant report

Variant	rs17621014
Chromosome Location	chr7:140155800-140155801
allele	C/T
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	POLR2A	chr7:140150817-140156302	K562	blood:	n/a	n/a
2	TBP	chr7:140155386-140155835	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr7:140155512-140155927	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3AK20	chr7:140155643-140155852	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr7:140155513-140156021	H1-hESC	embryonic stem cell:	n/a	chr7:140155807-140155814 chr7:140155806-140155816 chr7:140155806-140155815 chr7:140155805-140155816
6	MXI1	chr7:140155593-140156014	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:140155563-140155898	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:140154871-140156100	H1-hESC	embryonic stem cell:	n/a	n/a
9	HDAC2	chr7:140155520-140155911	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr7:140155490-140156065	H1-hESC	embryonic stem cell:	n/a	chr7:140155807-140155814 chr7:140155806-140155816 chr7:140155806-140155815 chr7:140155805-140155816
11	POLR2A	chr7:140155634-140155804	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr7:140155503-140155895	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr7:140155476-140155910	H1-hESC	embryonic stem cell:	n/a	n/a
14	USF1	chr7:140155573-140155942	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr7:140155335-140155960	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr7:140155322-140155965	H1-hESC	embryonic stem cell:	n/a	n/a
17	TEAD4	chr7:140155461-140155933	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3A	chr7:140155556-140155995	H1-hESC	embryonic stem cell:	n/a	n/a
19	TEAD4	chr7:140155449-140155901	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr7:140155419-140155814	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF1	chr7:140155587-140155912	H1-hESC	embryonic stem cell:	n/a	n/a
22	USF2	chr7:140155661-140155941	H1-hESC	embryonic stem cell:	n/a	n/a
23	NANOG	chr7:140155587-140155845	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr7:140155074-140156134	HepG2	liver:	n/a	n/a
25	MAX	chr7:140155534-140155992	H1-hESC	embryonic stem cell:	n/a	chr7:140155807-140155814 chr7:140155806-140155816 chr7:140155806-140155815 chr7:140155805-140155816
26	POLR2A	chr7:140155222-140155909	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr7:140155669-140156037	H1-hESC	embryonic stem cell:	n/a	chr7:140155807-140155814 chr7:140155806-140155816 chr7:140155806-140155815 chr7:140155805-140155816
28	SP1	chr7:140155365-140155913	H1-hESC	embryonic stem cell:	n/a	n/a
29	E2F6	chr7:140155654-140156016	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr7:140155678-140155915	K562	blood:	n/a	n/a
31	POLR2A	chr7:140155398-140155847	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv966896	chr7:140153046-140156664	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	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:136 , 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	chr7:140135800-140156000	Weak transcription	NHEK	skin
3	chr7:140150800-140171800	Strong transcription	Fetal Thymus	thymus
4	chr7:140151000-140156200	Strong transcription	Fetal Brain Female	brain
5	chr7:140151000-140171600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:140151000-140171600	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:140151000-140173400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:140151200-140160600	Weak transcription	Stomach Mucosa	stomach
9	chr7:140151200-140161800	Strong transcription	Placenta	Placenta
10	chr7:140151200-140171600	Strong transcription	Adipose Nuclei	Adipose
11	chr7:140151200-140172200	Strong transcription	Fetal Stomach	stomach
12	chr7:140151400-140156200	Strong transcription	Fetal Intestine Large	intestine
13	chr7:140151400-140156800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:140151400-140157200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:140151400-140161000	Strong transcription	Primary B cells from cord blood	blood
16	chr7:140151400-140162400	Strong transcription	Thymus	Thymus
17	chr7:140151400-140163600	Strong transcription	Primary T cells from cord blood	blood
18	chr7:140151400-140171800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr7:140151400-140172200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:140151600-140156000	Strong transcription	Brain Cingulate Gyrus	brain
21	chr7:140151600-140157800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:140151600-140172200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:140151800-140155800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:140151800-140172200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:140151800-140176600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:140152200-140156400	Strong transcription	Liver	Liver
27	chr7:140152200-140157600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:140152200-140159000	Strong transcription	Left Ventricle	heart
29	chr7:140152200-140163000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr7:140152200-140163000	Strong transcription	Fetal Muscle Leg	muscle
31	chr7:140152200-140171400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:140152200-140172000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:140152200-140172000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:140152200-140172000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:140152200-140172200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr7:140152400-140163400	Strong transcription	Dnd41	blood
37	chr7:140152400-140166400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr7:140152400-140171600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:140152400-140171600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr7:140152400-140171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:140152400-140172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:140152600-140155800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:140152600-140155800	Strong transcription	Colon Smooth Muscle	Colon
44	chr7:140152600-140159000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:140152600-140159200	Strong transcription	NHDF-Ad	bronchial
46	chr7:140152600-140159800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:140152600-140161400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:140152600-140165800	Strong transcription	Spleen	Spleen
49	chr7:140152600-140167400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:140152600-140171800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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