Variant report

Variant	rs60007968
Chromosome Location	chr7:56052083-56052084
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	chr7:56045426..56048074-chr7:56049775..56052660,2	K562	blood:
2	chr7:56048174..56049686-chr7:56050042..56052872,3	K562	blood:

Variant related genes	Relation type
ENSG00000146729	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11489729	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13243725	0.98[AFR][1000 genomes]
rs13340526	0.90[AFR][1000 genomes]
rs17172505	0.92[ASN][1000 genomes]
rs34719521	0.98[AFR][1000 genomes]
rs4360246	0.96[AFR][1000 genomes]
rs56231305	1.00[ASN][1000 genomes]
rs56917729	0.90[AFR][1000 genomes]
rs57580348	1.00[ASN][1000 genomes]
rs61193865	1.00[ASN][1000 genomes]
rs73343714	0.90[AFR][1000 genomes]
rs73343719	0.96[AFR][1000 genomes]
rs73358448	0.85[ASN][1000 genomes]
rs73358466	1.00[ASN][1000 genomes]
rs73358468	1.00[ASN][1000 genomes]
rs73360334	1.00[ASN][1000 genomes]
rs73360352	1.00[ASN][1000 genomes]
rs73360362	1.00[ASN][1000 genomes]
rs73360364	1.00[ASN][1000 genomes]
rs73360369	1.00[ASN][1000 genomes]
rs73360377	1.00[ASN][1000 genomes]
rs73698917	1.00[ASN][1000 genomes]
rs73698918	1.00[ASN][1000 genomes]
rs73698919	1.00[ASN][1000 genomes]
rs73698972	1.00[ASN][1000 genomes]
rs73698975	1.00[ASN][1000 genomes]
rs73698976	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers 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	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers 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 target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers 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 target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS 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 target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv1017793	chr7:56051267-56098030	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56033200-56081400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:56033800-56063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:56033800-56065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:56039200-56081600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:56039400-56062400	Weak transcription	Stomach Mucosa	stomach
6	chr7:56044000-56053200	Strong transcription	Primary T cells from cord blood	blood
7	chr7:56045000-56067400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:56045200-56068200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:56045400-56054000	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:56045400-56054000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr7:56045400-56055000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:56045400-56057400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:56045400-56057400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:56045400-56057600	Strong transcription	Dnd41	blood
15	chr7:56045400-56059200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:56045400-56067000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:56045400-56067000	Strong transcription	Liver	Liver
18	chr7:56045400-56067200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr7:56045400-56067400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:56045600-56053000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr7:56045600-56053200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:56045600-56053600	Strong transcription	Primary hematopoietic stem cells	blood
23	chr7:56045600-56053800	Strong transcription	Left Ventricle	heart
24	chr7:56045600-56054000	Strong transcription	Placenta	Placenta
25	chr7:56045600-56054400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:56045600-56054400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr7:56045600-56056400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr7:56045600-56056800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:56045600-56057400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:56045600-56057600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:56045600-56062400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:56045600-56066600	Strong transcription	Fetal Stomach	stomach
33	chr7:56045600-56067400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:56045600-56067400	Strong transcription	Fetal Intestine Large	intestine
35	chr7:56045800-56053200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr7:56045800-56053400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:56045800-56053800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:56045800-56054400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:56045800-56055000	Strong transcription	Fetal Thymus	thymus
40	chr7:56045800-56056400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:56045800-56057400	Strong transcription	Adipose Nuclei	Adipose
42	chr7:56045800-56057400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:56045800-56057600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:56045800-56057600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr7:56045800-56066800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:56045800-56068000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr7:56046000-56054400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:56046000-56054400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:56046000-56056800	Strong transcription	Brain Anterior Caudate	brain
50	chr7:56046000-56057400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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