Variant report

Variant	rs56115622
Chromosome Location	chr7:100868695-100868696
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100867526..100870116-chr7:100887548..100889599,2	K562	blood:
2	chr7:100868664..100871894-chr7:100886291..100889218,3	MCF-7	breast:
3	chr7:100859189..100864017-chr7:100867643..100870751,4	K562	blood:
4	chr7:100862517..100867092-chr7:100867176..100870862,5	K562	blood:
5	chr7:100867452..100869294-chr7:100872768..100875203,2	K562	blood:

Variant related genes	Relation type
ENSG00000106400	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000214253	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10215517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10265282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227700	1.00[AMR][1000 genomes]
rs28429010	0.86[AFR][1000 genomes]
rs56037105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56134317	1.00[AMR][1000 genomes]
rs56908565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56947489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57225690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58061448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58680639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59337995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59928515	1.00[AMR][1000 genomes]
rs73713814	1.00[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	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	63 gene(s)	inside rSNPs	diseases
5	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv607973	chr7:100782460-100873835	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv607975	chr7:100804140-100873835	Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv464652	chr7:100804140-100881640	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv607976	chr7:100804140-100881640	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv888817	chr7:100804140-100881640	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv607977	chr7:100818846-100881640	Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
18	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
19	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
20	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100862200-100875200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100862400-100874400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:100862400-100875400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:100862400-100887000	Weak transcription	Fetal Kidney	kidney
5	chr7:100862800-100875400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:100863200-100870200	Weak transcription	Fetal Brain Male	brain
7	chr7:100863200-100872600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:100863200-100874800	Weak transcription	HUVEC	blood vessel
9	chr7:100863200-100875000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:100863800-100872800	Strong transcription	Placenta	Placenta
11	chr7:100863800-100875600	Weak transcription	Right Atrium	heart
12	chr7:100863800-100884000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:100863800-100886800	Weak transcription	Psoas Muscle	Psoas
14	chr7:100863800-100886800	Weak transcription	Hela-S3	cervix
15	chr7:100864000-100873800	Weak transcription	Stomach Mucosa	stomach
16	chr7:100864200-100872800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:100864200-100875000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:100864400-100871200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:100864400-100872600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:100864400-100873800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:100864400-100874200	Strong transcription	Fetal Intestine Small	intestine
22	chr7:100864400-100875000	Strong transcription	Fetal Stomach	stomach
23	chr7:100864600-100872200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:100864600-100872600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:100864600-100873200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr7:100864600-100874000	Strong transcription	Fetal Muscle Leg	muscle
27	chr7:100864600-100874000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr7:100864600-100874200	Strong transcription	Fetal Intestine Large	intestine
29	chr7:100864800-100869400	Strong transcription	Brain Cingulate Gyrus	brain
30	chr7:100864800-100869600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:100864800-100869600	Strong transcription	Fetal Thymus	thymus
32	chr7:100864800-100870000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:100864800-100871000	Strong transcription	NHLF	lung
34	chr7:100864800-100872600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:100864800-100874400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:100865000-100869200	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr7:100865000-100869400	Strong transcription	A549	lung
38	chr7:100865000-100869600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr7:100865000-100870400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:100865000-100872000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr7:100865000-100872200	Strong transcription	Brain Anterior Caudate	brain
42	chr7:100865000-100872800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr7:100865000-100872800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:100865000-100872800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:100865000-100872800	Strong transcription	Adipose Nuclei	Adipose
46	chr7:100865000-100873400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:100865000-100873800	Strong transcription	Lung	lung
48	chr7:100865000-100874600	Strong transcription	Primary T cells from cord blood	blood
49	chr7:100865000-100875800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:100865000-100884800	Strong transcription	Thymus	Thymus

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