Variant report

Variant	rs57624936
Chromosome Location	chr7:100342945-100342946
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	chr7:100033824..100035649-chr7:100341389..100343074,2	K562	blood:
2	chr7:100330076..100331647-chr7:100341645..100343390,2	K562	blood:

Variant related genes	Relation type
ENSG00000146839	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000160813	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17162408	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59192405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60177280	1.00[AMR][1000 genomes]
rs73711154	1.00[AMR][1000 genomes]
rs73711168	1.00[AMR][1000 genomes]
rs73711175	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv3519627	chr7:100320350-100343994	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv3519628	chr7:100320350-100343994	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv5869	chr7:100325725-100347340	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	esv15759	chr7:100327862-100343215	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv607944	chr7:100329189-100344359	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv1825098	chr7:100332291-100343168	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv607956	chr7:100332481-100344359	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv607960	chr7:100333271-100344359	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv607964	chr7:100334093-100344359	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3476480	chr7:100340913-100343631	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv3476478	chr7:100341157-100343379	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv3476479	chr7:100341166-100343361	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv3476481	chr7:100341166-100343361	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	esv33833	chr7:100341678-100343192	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100342400-100343000	Active TSS	Placenta	Placenta
2	chr7:100342600-100343000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:100342600-100343000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:100342600-100343000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:100342600-100343000	Active TSS	Esophagus	oesophagus
6	chr7:100342600-100343000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
7	chr7:100342600-100343200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr7:100342600-100343200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:100342600-100343200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:100342600-100343200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:100342600-100343200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
12	chr7:100342600-100343200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:100342600-100343200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:100342600-100343200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr7:100342600-100343200	Active TSS	Duodenum Mucosa	Duodenum
16	chr7:100342600-100343200	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr7:100342600-100343200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
18	chr7:100342600-100343200	Active TSS	NHDF-Ad	bronchial
19	chr7:100342600-100343400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr7:100342600-100343400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:100342600-100343400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:100342600-100343400	Active TSS	Fetal Kidney	kidney
23	chr7:100342600-100343400	Active TSS	Fetal Lung	lung
24	chr7:100342600-100343400	Active TSS	Ovary	ovary
25	chr7:100342800-100343000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:100342800-100343000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:100342800-100343000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr7:100342800-100343000	Active TSS	Primary B cells from peripheral blood	blood
29	chr7:100342800-100343000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
30	chr7:100342800-100343000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr7:100342800-100343000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:100342800-100343000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:100342800-100343000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:100342800-100343000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:100342800-100343000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr7:100342800-100343000	Active TSS	Gastric	stomach
37	chr7:100342800-100343000	Active TSS	Lung	lung
38	chr7:100342800-100343000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
39	chr7:100342800-100343200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:100342800-100343200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr7:100342800-100343200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:100342800-100343200	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
43	chr7:100342800-100343200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
44	chr7:100342800-100343200	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr7:100342800-100343200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:100342800-100343200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:100342800-100343200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
48	chr7:100342800-100343200	Active TSS	Brain Cingulate Gyrus	brain
49	chr7:100342800-100343200	Active TSS	Brain Hippocampus Middle	brain
50	chr7:100342800-100343200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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