Variant report

Variant	rs7385860
Chromosome Location	chr7:102057371-102057372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102056273..102057803-chr7:102061008..102062527,2	K562	blood:
2	chr7:102054913..102058097-chr7:102085637..102088433,3	MCF-7	breast:
3	chr7:102056273..102058110-chr7:102061008..102062890,2	K562	blood:
4	chr7:102049801..102052489-chr7:102056531..102058943,2	MCF-7	breast:
5	chr7:102057347..102059556-chr7:102063552..102065546,3	MCF-7	breast:
6	chr7:102044217..102047065-chr7:102056519..102058250,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221510	Chromatin interaction
ENSG00000128563	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1997165	0.80[AFR][1000 genomes]
rs1997166	0.82[AFR][1000 genomes]

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	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS 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	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102038000-102066800	Weak transcription	Stomach Mucosa	stomach
2	chr7:102038800-102068600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:102039000-102058000	Strong transcription	Osteobl	bone
4	chr7:102039000-102062400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:102039000-102062400	Strong transcription	Stomach Smooth Muscle	stomach
6	chr7:102039200-102059200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr7:102039200-102059800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:102039200-102062400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:102039200-102062600	Strong transcription	Dnd41	blood
10	chr7:102039200-102068200	Strong transcription	Placenta	Placenta
11	chr7:102039200-102070000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:102039400-102060200	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr7:102039400-102060600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:102039400-102061000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:102039400-102061600	Strong transcription	Fetal Intestine Large	intestine
16	chr7:102039400-102063000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:102039400-102063600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:102039600-102060000	Strong transcription	Fetal Lung	lung
19	chr7:102039600-102067800	Strong transcription	Liver	Liver
20	chr7:102039600-102068200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:102039800-102065800	Strong transcription	Adipose Nuclei	Adipose
22	chr7:102039800-102068600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:102042600-102062400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:102045000-102067800	Strong transcription	HepG2	liver
25	chr7:102048600-102060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:102050600-102064200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:102050800-102062400	Strong transcription	Brain Germinal Matrix	brain
28	chr7:102050800-102062600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:102050800-102063000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:102050800-102064400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr7:102050800-102065000	Strong transcription	Fetal Stomach	stomach
32	chr7:102050800-102066000	Strong transcription	Fetal Intestine Small	intestine
33	chr7:102050800-102073400	Weak transcription	Psoas Muscle	Psoas
34	chr7:102051000-102062200	Strong transcription	Lung	lung
35	chr7:102051000-102063200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:102051000-102064600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:102051000-102065600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:102051000-102068400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:102051000-102068600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:102051200-102061200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:102051200-102064600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:102051200-102073400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:102051400-102074400	Weak transcription	Fetal Heart	heart
44	chr7:102051600-102070000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:102053000-102057600	Weak transcription	NHDF-Ad	bronchial
46	chr7:102053000-102057800	Strong transcription	HSMM	muscle
47	chr7:102053400-102060800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr7:102053400-102064200	Strong transcription	Fetal Muscle Leg	muscle
49	chr7:102053600-102073200	Weak transcription	Right Atrium	heart
50	chr7:102053800-102058800	Weak transcription	A549	lung

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