Variant report

Variant	rs531868542
Chromosome Location	chr7:99868808-99868809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99678858..99680502-chr7:99868393..99870017,2	K562	blood:

Variant related genes	Relation type
ENSG00000166526	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer 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 miRNA target site	1085 gene(s)	inside rSNPs	diseases
3	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv8182	chr7:99799816-99879781	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	esv16057	chr7:99809377-99937347	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3379367	chr7:99811760-99938687	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3379649	chr7:99812207-99939196	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
13	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	nsv981558	chr7:99836239-99870051	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	esv3322577	chr7:99868041-99870889	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv3445290	chr7:99868266-99870664	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv3325915	chr7:99868641-99871189	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 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	chr7:99862800-99869200	Weak transcription	Lung	lung
2	chr7:99865000-99869400	Weak transcription	Spleen	Spleen
3	chr7:99866800-99870600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:99867200-99869000	Enhancers	Stomach Mucosa	stomach
5	chr7:99867400-99870000	Active TSS	Brain Germinal Matrix	brain
6	chr7:99867400-99870200	Active TSS	Rectal Smooth Muscle	rectum
7	chr7:99867400-99870200	Active TSS	HepG2	liver
8	chr7:99867600-99870000	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr7:99867600-99870200	Active TSS	Brain Cingulate Gyrus	brain
10	chr7:99867600-99870200	Active TSS	Brain Hippocampus Middle	brain
11	chr7:99867600-99870200	Active TSS	Brain Substantia Nigra	brain
12	chr7:99867600-99870400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:99867600-99870400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:99867600-99870400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:99867600-99870400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr7:99867600-99870400	Active TSS	Fetal Brain Female	brain
17	chr7:99867600-99870600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:99867600-99870600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:99867800-99870000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:99867800-99870400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:99867800-99870400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr7:99867800-99870400	Active TSS	Brain Anterior Caudate	brain
23	chr7:99867800-99870400	Active TSS	A549	lung
24	chr7:99867800-99870600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:99867800-99870800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr7:99868000-99870000	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr7:99868000-99870000	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr7:99868000-99870200	Active TSS	HSMMtube	muscle
29	chr7:99868000-99870400	Active TSS	Brain Angular Gyrus	brain
30	chr7:99868000-99870400	Active TSS	Psoas Muscle	Psoas
31	chr7:99868200-99869000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:99868200-99869000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:99868200-99869000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr7:99868200-99869000	Enhancers	Fetal Heart	heart
35	chr7:99868200-99869000	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr7:99868200-99870000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:99868200-99870000	Active TSS	Ovary	ovary
38	chr7:99868200-99870000	Active TSS	Pancreas	Pancrea
39	chr7:99868200-99870200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:99868200-99870200	Active TSS	Fetal Kidney	kidney
41	chr7:99868200-99870200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr7:99868200-99870400	Active TSS	H1 Cell Line	embryonic stem cell
43	chr7:99868200-99870400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:99868200-99870400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr7:99868200-99870400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:99868200-99870400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:99868200-99870400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:99868200-99870400	Active TSS	NHDF-Ad	bronchial
49	chr7:99868200-99870400	Active TSS	NHLF	lung
50	chr7:99868400-99869000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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