Variant report

Variant	rs58303681
Chromosome Location	chr7:7229902-7229903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7227526..7230413-chr7:7241533..7244202,2	K562	blood:
2	chr7:7227727..7230614-chr7:7280890..7283240,2	K562	blood:
3	chr7:7228949..7231828-chr7:7247534..7249931,2	K562	blood:
4	chr7:7220661..7223527-chr7:7229219..7232233,3	MCF-7	breast:
5	chr7:7229626..7232056-chr7:7343354..7345777,2	K562	blood:

Variant related genes	Relation type
ENSG00000106392	Chromatin interaction

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

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

rs_ID	r²[population]
rs56382733	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59254091	0.85[AFR][1000 genomes];1.00[AMR][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	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1020929	chr7:6954959-7232920	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv464300	chr7:7040176-7368699	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv606033	chr7:7040176-7368699	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS 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	42 gene(s)	inside rSNPs	diseases
8	nsv1016369	chr7:7053923-7375567	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1023788	chr7:7053923-7407783	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv538720	chr7:7053923-7407783	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' 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
13	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv1032974	chr7:7145831-7393218	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 target site	84 gene(s)	inside rSNPs	diseases
17	nsv508445	chr7:7190518-7261098	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv8041	chr7:7228104-7230462	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7223200-7234000	Weak transcription	Small Intestine	intestine
2	chr7:7223400-7240800	Weak transcription	Esophagus	oesophagus
3	chr7:7223400-7241400	Weak transcription	Pancreas	Pancrea
4	chr7:7223800-7230000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:7223800-7234800	Weak transcription	Right Ventricle	heart
6	chr7:7223800-7240800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:7223800-7241000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:7223800-7279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:7224000-7230000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr7:7224000-7230400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:7224400-7230000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr7:7224600-7232800	Weak transcription	HUVEC	blood vessel
13	chr7:7225000-7231000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:7225000-7243200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:7225200-7233000	Weak transcription	Thymus	Thymus
16	chr7:7225200-7233200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:7225200-7241000	Weak transcription	HMEC	breast
18	chr7:7225200-7241200	Weak transcription	Hela-S3	cervix
19	chr7:7225400-7230000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:7225400-7230800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:7225400-7233600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:7225600-7232000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:7225800-7233000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:7225800-7233000	Weak transcription	Psoas Muscle	Psoas
25	chr7:7226000-7240800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:7226200-7230600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:7226200-7235200	Weak transcription	Brain Substantia Nigra	brain
28	chr7:7226400-7231800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:7226400-7232600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:7226600-7231600	Weak transcription	Fetal Brain Male	brain
31	chr7:7226600-7232000	Weak transcription	Dnd41	blood
32	chr7:7226800-7230000	Enhancers	HepG2	liver
33	chr7:7226800-7232800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr7:7226800-7233800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:7227000-7230200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr7:7227400-7241000	Weak transcription	Fetal Thymus	thymus
37	chr7:7227600-7230600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:7227800-7231000	Weak transcription	NHEK	skin
39	chr7:7228000-7232600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:7228000-7233600	Weak transcription	Primary B cells from cord blood	blood
41	chr7:7228000-7240800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:7228000-7241200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:7228600-7230200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:7228800-7230000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr7:7228800-7230000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr7:7228800-7233200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:7229000-7230000	Enhancers	Primary T cells from cord blood	blood
48	chr7:7229000-7230000	Enhancers	Brain Anterior Caudate	brain
49	chr7:7229000-7230200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr7:7229200-7230200	Enhancers	NHDF-Ad	bronchial

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