Variant report

Variant	rs860424
Chromosome Location	chr7:5676612-5676613
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	chr7:5673316..5675722-chr7:5676107..5679530,3	K562	blood:
2	chr7:5630981..5635374-chr7:5673788..5678514,7	K562	blood:

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12539336	0.91[AFR][1000 genomes]
rs61405954	0.86[AFR][1000 genomes]
rs852374	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs852394	0.81[AFR][1000 genomes]
rs852400	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs852417	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs852452	0.92[AFR][1000 genomes];0.81[EUR][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	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription 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 miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
7	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
8	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
9	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
10	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
11	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
12	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
13	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
15	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
16	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
18	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:5669800-5677600	Genic enhancers	Fetal Stomach	stomach
3	chr7:5671800-5682800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:5672000-5681200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:5672800-5677200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:5672800-5677400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:5673000-5677200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:5673000-5677200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:5673000-5677600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:5673000-5677600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:5673000-5677800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:5673200-5677000	Enhancers	Ovary	ovary
13	chr7:5673200-5677200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:5673200-5677200	Enhancers	Brain Germinal Matrix	brain
15	chr7:5673200-5677200	Enhancers	Rectal Smooth Muscle	rectum
16	chr7:5673200-5677200	Enhancers	Stomach Mucosa	stomach
17	chr7:5673200-5677400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:5673200-5677800	Enhancers	HUVEC	blood vessel
19	chr7:5673200-5681000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:5673400-5677200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:5673400-5677800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:5673600-5677000	Enhancers	Right Atrium	heart
23	chr7:5673800-5677800	Enhancers	Pancreas	Pancrea
24	chr7:5673800-5681800	Strong transcription	Primary T cells from cord blood	blood
25	chr7:5674000-5677400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:5674000-5677400	Enhancers	Colon Smooth Muscle	Colon
27	chr7:5674000-5678800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:5674000-5679200	Enhancers	HMEC	breast
29	chr7:5674200-5677200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:5674200-5677400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:5674200-5681200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:5674400-5677000	Enhancers	Fetal Muscle Trunk	muscle
33	chr7:5674400-5677200	Enhancers	Fetal Kidney	kidney
34	chr7:5674400-5677400	Enhancers	Osteobl	bone
35	chr7:5674400-5677600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:5674400-5677600	Enhancers	NHLF	lung
37	chr7:5674400-5681400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:5674600-5677400	Enhancers	Adipose Nuclei	Adipose
39	chr7:5674600-5677400	Enhancers	Colonic Mucosa	Colon
40	chr7:5674600-5677600	Genic enhancers	HepG2	liver
41	chr7:5674600-5681000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:5674600-5688800	Weak transcription	Aorta	Aorta
43	chr7:5674800-5676800	Weak transcription	Thymus	Thymus
44	chr7:5674800-5677000	Enhancers	Fetal Lung	lung
45	chr7:5674800-5677400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr7:5674800-5681200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:5674800-5681400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr7:5674800-5683000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr7:5674800-5693600	Strong transcription	Dnd41	blood
50	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine

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