Variant report

Variant	rs549744627
Chromosome Location	chr7:97362425-97362426
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	MAX	chr7:97362258-97362965	ECC-1	luminal epithelium:	n/a	n/a
2	MXI1	chr7:97362425-97362678	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr7:97362024-97362914	H1-hESC	embryonic stem cell:	n/a	n/a
4	GTF2F1	chr7:97362361-97362584	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr7:97362378-97362966	ECC-1	luminal epithelium:	n/a	n/a
6	REST	chr7:97360713-97365067	H1-neurons	neurons:	n/a	chr7:97361557-97361577 chr7:97361562-97361571 chr7:97361518-97361528 chr7:97361522-97361535
7	CTBP2	chr7:97361122-97363337	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr7:97361897-97363062	H1-hESC	embryonic stem cell:	n/a	n/a
9	SUZ12	chr7:97360861-97363885	NT2-D1	testis:	n/a	n/a
10	TAF1	chr7:97361893-97363617	H1-neurons	neurons:	n/a	n/a
11	SIN3A	chr7:97362067-97363515	H1-hESC	embryonic stem cell:	n/a	chr7:97362900-97362911
12	POLR2A	chr7:97362390-97362495	MCF-7	breast:	n/a	n/a
13	MAX	chr7:97362352-97362855	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr7:97361949-97363399	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:97360795-97364005	H1-neurons	neurons:	n/a	n/a
16	E2F6	chr7:97361951-97363055	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr7:97362241-97362510	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr7:97360738-97363977	H1-neurons	neurons:	n/a	n/a
19	E2F6	chr7:97362026-97363014	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TAC1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3359061	chr7:96997047-97402692	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv888757	chr7:97003503-97461115	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027086	chr7:97076283-97404597	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv888759	chr7:97283118-97422195	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv437559	chr7:97361784-97383320	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97360600-97363200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr7:97360600-97363600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:97360600-97363600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:97360800-97363200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:97360800-97363200	Bivalent Enhancer	Liver	Liver
6	chr7:97360800-97363400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr7:97360800-97363400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:97360800-97363400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:97360800-97363600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:97361000-97362600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:97361000-97362800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr7:97361000-97363000	Bivalent Enhancer	Lung	lung
13	chr7:97361000-97363200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:97361000-97363200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:97361000-97363200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
16	chr7:97361000-97363400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:97361000-97363400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr7:97361000-97363600	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr7:97361200-97362600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:97361200-97362600	Bivalent Enhancer	Fetal Brain Male	brain
21	chr7:97361200-97362800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
22	chr7:97361200-97363400	Bivalent Enhancer	Left Ventricle	heart
23	chr7:97361200-97363600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr7:97361400-97362600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:97361400-97362600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:97361400-97362600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr7:97361400-97362600	Bivalent Enhancer	Fetal Lung	lung
28	chr7:97361400-97363200	Bivalent Enhancer	Placenta	Placenta
29	chr7:97361600-97362600	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr7:97361600-97363400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:97362000-97362600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
32	chr7:97362000-97362800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr7:97362000-97363000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:97362000-97363200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:97362000-97363200	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr7:97362000-97363200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr7:97362000-97363400	Bivalent Enhancer	Ovary	ovary
38	chr7:97362000-97363400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr7:97362200-97362600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:97362200-97362600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr7:97362200-97362600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
42	chr7:97362200-97362800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:97362200-97362800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
44	chr7:97362200-97362800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr7:97362200-97362800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:97362200-97362800	Bivalent Enhancer	Esophagus	oesophagus
47	chr7:97362200-97362800	Bivalent/Poised TSS	HSMM	muscle
48	chr7:97362200-97363000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr7:97362200-97363200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr7:97362200-97363200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum

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