Variant report

Variant	rs551083974
Chromosome Location	chr7:100734788-100734789
allele	A/C
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	chr7:100734751-100735020	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:100734026-100734866	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100733241..100735630-chr7:100761919..100764639,2	K562	blood:
2	chr7:100486155..100488924-chr7:100732323..100735470,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260336	TF binding region
ENSG00000176125	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	32 gene(s)	inside rSNPs	diseases
13	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
15	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
16	nsv5874	chr7:100734048-100744472	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100729400-100736000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:100729400-100737800	Weak transcription	Small Intestine	intestine
3	chr7:100729400-100742600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:100729400-100742600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:100729400-100742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:100729400-100742800	Weak transcription	Brain Substantia Nigra	brain
7	chr7:100729600-100735000	Weak transcription	Fetal Kidney	kidney
8	chr7:100729600-100736600	Weak transcription	NH-A	brain
9	chr7:100729600-100742800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:100729800-100734800	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr7:100730200-100734800	Strong transcription	Fetal Thymus	thymus
12	chr7:100730200-100735000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:100730200-100735200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr7:100730200-100735400	Strong transcription	Fetal Stomach	stomach
15	chr7:100730400-100734800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:100730400-100734800	Strong transcription	Primary T cells from cord blood	blood
17	chr7:100730400-100734800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:100730400-100735000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:100730400-100735000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr7:100730400-100735200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:100730400-100735600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:100730400-100735600	Strong transcription	Thymus	Thymus
23	chr7:100730400-100738000	Weak transcription	HepG2	liver
24	chr7:100730400-100742600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:100730600-100734800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr7:100730600-100734800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr7:100730600-100735000	Strong transcription	Fetal Intestine Large	intestine
28	chr7:100730600-100735200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:100730600-100737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:100730600-100737200	Weak transcription	HUVEC	blood vessel
31	chr7:100730600-100737800	Weak transcription	K562	blood
32	chr7:100730600-100742800	Weak transcription	Brain Anterior Caudate	brain
33	chr7:100730600-100742800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:100730800-100738000	Weak transcription	Stomach Mucosa	stomach
35	chr7:100730800-100743200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:100731000-100735600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:100731200-100734800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:100731200-100736600	Weak transcription	HMEC	breast
39	chr7:100731200-100742800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:100731600-100735600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:100731800-100735600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:100732200-100734800	Strong transcription	NHDF-Ad	bronchial
43	chr7:100732400-100737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:100732400-100742800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:100732400-100743000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:100732600-100734800	Strong transcription	Fetal Lung	lung
47	chr7:100732600-100742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:100732600-100742400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:100732600-100742600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:100732800-100742800	Weak transcription	Colon Smooth Muscle	Colon

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