Variant report

Variant	rs562071431
Chromosome Location	chr7:100292418-100292419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100289314..100293442-chr7:100296051..100298941,4	MCF-7	breast:
2	chr7:100291734..100293834-chr7:100411313..100413984,2	MCF-7	breast:
3	chr7:100222794..100225924-chr7:100289657..100292852,4	MCF-7	breast:
4	chr7:100291635..100293380-chr7:100321369..100322955,2	MCF-7	breast:
5	chr7:100288992..100293891-chr7:100317292..100321001,4	MCF-7	breast:
6	chr7:100199658..100204753-chr7:100287607..100293733,10	K562	blood:
7	chr7:100289903..100293307-chr7:100301970..100305114,7	K562	blood:
8	chr7:100292109..100293642-chr7:100462189..100464679,2	MCF-7	breast:
9	chr7:100177845..100180104-chr7:100290366..100293709,4	MCF-7	breast:
10	chr7:100288252..100292867-chr7:100319528..100322364,4	K562	blood:
11	chr7:100287688..100293699-chr7:100300603..100306359,15	MCF-7	breast:
12	chr6:26053433..26055851-chr7:100290372..100293044,2	MCF-7	breast:
13	chr7:100162910..100168606-chr7:100287546..100292436,6	MCF-7	breast:
14	chr7:100198433..100204411-chr7:100285757..100293733,14	K562	blood:
15	chr7:100080135..100081654-chr7:100290333..100292892,2	MCF-7	breast:
16	chr7:100289903..100293628-chr7:100299918..100304988,11	K562	blood:
17	chr7:100208850..100211238-chr7:100289549..100292875,4	K562	blood:
18	chr7:100197481..100201934-chr7:100289981..100293981,6	MCF-7	breast:
19	chr7:100025861..100030068-chr7:100288797..100293203,7	K562	blood:
20	chr7:100181942..100185382-chr7:100289663..100293010,6	K562	blood:
21	chr7:100290419..100293382-chr7:100421709..100425907,4	MCF-7	breast:
22	chr7:100025034..100028922-chr7:100288914..100292951,6	K562	blood:
23	chr7:100207033..100212293-chr7:100287661..100294075,8	MCF-7	breast:
24	chr7:100183057..100185845-chr7:100291476..100293682,3	MCF-7	breast:
25	chr7:100247255..100249496-chr7:100290650..100293134,2	K562	blood:
26	chr7:100179120..100183907-chr7:100289595..100293366,6	MCF-7	breast:
27	chr7:100291258..100294008-chr7:100480725..100482428,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130427	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000184414	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
3	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv888795	chr7:100266081-100298626	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	31 gene(s)	inside rSNPs	diseases
12	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
13	esv3405374	chr7:100290641-100293189	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
14	esv3438620	chr7:100290816-100293089	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
15	esv3436506	chr7:100291316-100292864	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100289800-100293600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:100290000-100293800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:100290400-100292600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:100290600-100292600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:100290600-100292600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:100290600-100292600	Active TSS	Aorta	Aorta
7	chr7:100290600-100293600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:100290600-100294000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:100290800-100292600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:100290800-100292600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr7:100290800-100292600	Active TSS	Brain Angular Gyrus	brain
12	chr7:100290800-100292600	Active TSS	Brain Anterior Caudate	brain
13	chr7:100290800-100292600	Active TSS	Brain Hippocampus Middle	brain
14	chr7:100290800-100292600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr7:100290800-100292600	Active TSS	Right Ventricle	heart
16	chr7:100290800-100294000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:100291000-100292600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:100291000-100292600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:100291000-100292600	Active TSS	Colon Smooth Muscle	Colon
20	chr7:100291000-100292600	Active TSS	Hela-S3	cervix
21	chr7:100291200-100292600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:100291200-100292600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:100291200-100292600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:100291200-100292600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:100291200-100292600	Active TSS	Pancreas	Pancrea
26	chr7:100291200-100292600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr7:100291200-100292600	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr7:100291200-100292800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:100291200-100293200	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:100291400-100292600	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr7:100291400-100293400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr7:100291600-100293000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:100291600-100293000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:100291600-100293200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:100292200-100292600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr7:100292200-100292600	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr7:100292200-100292600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:100292200-100292600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr7:100292200-100292600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:100292200-100292600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr7:100292200-100292600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:100292200-100292600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:100292200-100292600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:100292200-100292600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr7:100292200-100292600	Enhancers	Brain Cingulate Gyrus	brain
46	chr7:100292200-100292600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr7:100292200-100292600	Enhancers	Brain Substantia Nigra	brain
48	chr7:100292200-100292600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr7:100292200-100292600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
50	chr7:100292200-100292600	Active TSS	Fetal Kidney	kidney

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