Variant report

Variant	rs10447643
Chromosome Location	chr7:4046393-4046394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4040678..4043127-chr7:4045371..4048352,2	K562	blood:
2	chr7:3965980..3968136-chr7:4044962..4047552,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10239052	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241063	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11973065	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11977366	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55809129	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469309	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462521	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462522	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462524	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950410	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964566	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6970334	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6978645	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73040451	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040457	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025497	chr7:3905444-4176032	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538686	chr7:3905444-4176032	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv433014	chr7:3910039-4054769	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1019305	chr7:3991646-4276004	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1033687	chr7:4006020-4267871	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv538688	chr7:4006020-4267871	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv917252	chr7:4017819-4374090	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv527624	chr7:4027536-4424054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4022000-4057800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:4030600-4046400	Weak transcription	Fetal Intestine Small	intestine
3	chr7:4031000-4050000	Weak transcription	Pancreas	Pancrea
4	chr7:4031200-4058400	Weak transcription	Gastric	stomach
5	chr7:4035400-4048800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:4038000-4046400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:4038000-4054800	Weak transcription	Spleen	Spleen
8	chr7:4040800-4049000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:4042000-4054000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:4043600-4046600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:4043600-4049200	Weak transcription	Aorta	Aorta
12	chr7:4044600-4052600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:4045000-4046400	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:4045200-4047200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:4045400-4046400	Active TSS	HSMM	muscle
16	chr7:4045400-4047000	Flanking Active TSS	HepG2	liver
17	chr7:4045600-4047000	Flanking Active TSS	NHEK	skin
18	chr7:4045600-4047200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:4045800-4046400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:4045800-4046400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:4045800-4046400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:4045800-4046400	Active TSS	Brain Cingulate Gyrus	brain
23	chr7:4045800-4046400	Active TSS	NH-A	brain
24	chr7:4045800-4046600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:4045800-4046600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:4045800-4046600	Weak transcription	Brain Angular Gyrus	brain
27	chr7:4045800-4046600	Active TSS	Brain Anterior Caudate	brain
28	chr7:4045800-4046600	Active TSS	Brain Hippocampus Middle	brain
29	chr7:4045800-4046600	Enhancers	HSMMtube	muscle
30	chr7:4045800-4046600	Active TSS	Osteobl	bone
31	chr7:4045800-4046800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:4045800-4046800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:4045800-4047000	Enhancers	Liver	Liver
34	chr7:4045800-4047200	Enhancers	Fetal Brain Female	brain
35	chr7:4045800-4047800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:4046000-4046400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr7:4046000-4046600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:4046000-4046600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:4046000-4046800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr7:4046000-4046800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:4046000-4046800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:4046000-4046800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:4046000-4047000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:4046000-4047000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr7:4046000-4047000	Enhancers	Fetal Intestine Large	intestine
46	chr7:4046000-4047200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:4046000-4047800	Enhancers	Fetal Brain Male	brain
48	chr7:4046200-4046800	Enhancers	Fetal Lung	lung
49	chr7:4046200-4047000	Enhancers	Duodenum Mucosa	Duodenum
50	chr7:4046200-4047200	Enhancers	H1 Cell Line	embryonic stem cell

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