Variant report

Variant	rs41394247
Chromosome Location	chr7:150692137-150692138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150595209..150595856-chr7:150691392..150692242,2	K562	blood:
2	chr7:150689613..150692426-chr7:150754513..150757333,2	MCF-7	breast:
3	chr7:150690495..150692157-chr7:150930437..150932550,2	K562	blood:
4	chr7:150691223..150692147-chr7:150705540..150706494,2	K562	blood:
5	chr7:150690578..150692213-chr7:150720359..150721973,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164889	Chromatin interaction
ENSG00000181652	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000033100	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3918162	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3918163	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41313104	1.00[AMR][1000 genomes]
rs41313113	1.00[AMR][1000 genomes]
rs56057312	1.00[AMR][1000 genomes]
rs73727457	1.00[AMR][1000 genomes]
rs73727469	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
4	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
11	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
12	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
14	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv889470	chr7:150667210-150696111	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
16	esv3392470	chr7:150691544-150694892	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	esv3405396	chr7:150691819-150695017	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150686200-150698000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:150688800-150697200	Weak transcription	Pancreas	Pancrea
3	chr7:150689600-150692200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:150689800-150692600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:150689800-150692600	Flanking Active TSS	Placenta	Placenta
6	chr7:150690000-150692600	Enhancers	Fetal Heart	heart
7	chr7:150690000-150692800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:150690200-150692200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:150690200-150692400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:150690200-150692600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:150690400-150692400	Active TSS	Stomach Smooth Muscle	stomach
12	chr7:150690400-150692600	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:150690400-150692800	Enhancers	Fetal Lung	lung
14	chr7:150690800-150692200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr7:150690800-150692400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr7:150690800-150692600	Flanking Active TSS	HUVEC	blood vessel
17	chr7:150691000-150692200	Active TSS	Liver	Liver
18	chr7:150691000-150692200	Flanking Active TSS	Fetal Stomach	stomach
19	chr7:150691000-150692400	Active TSS	Brain Anterior Caudate	brain
20	chr7:150691000-150692400	Active TSS	Psoas Muscle	Psoas
21	chr7:150691000-150692400	Active TSS	Rectal Smooth Muscle	rectum
22	chr7:150691000-150692600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:150691200-150692400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:150691200-150692600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:150691200-150692600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:150691200-150692800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr7:150691200-150693800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:150691400-150692200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:150691400-150692200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
30	chr7:150691400-150692200	Flanking Active TSS	Right Atrium	heart
31	chr7:150691400-150692200	Flanking Active TSS	Right Ventricle	heart
32	chr7:150691400-150692400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:150691400-150692400	Enhancers	Fetal Intestine Large	intestine
34	chr7:150691400-150692400	Enhancers	Fetal Intestine Small	intestine
35	chr7:150691400-150692400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr7:150691400-150692600	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr7:150691400-150692600	Bivalent Enhancer	Fetal Thymus	thymus
38	chr7:150691400-150694000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:150691600-150692200	Flanking Active TSS	Left Ventricle	heart
40	chr7:150691600-150692200	Enhancers	Ovary	ovary
41	chr7:150691600-150692200	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr7:150691600-150692200	Flanking Active TSS	Spleen	Spleen
43	chr7:150691600-150692400	Enhancers	Primary B cells from cord blood	blood
44	chr7:150691600-150692400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr7:150691600-150692400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:150691600-150692400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:150691600-150692400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr7:150691600-150692600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr7:150691600-150692600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr7:150691600-150692600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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