Variant report

Variant	rs62468898
Chromosome Location	chr7:126892130-126892131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr7:126891248-126892306	H1-hESC	embryonic stem cell:	n/a	chr7:126891678-126891685 chr7:126891677-126891689 chr7:126892275-126892285 chr7:126891678-126891685 chr7:126891675-126891690 chr7:126891678-126891685
2	CTCF	chr7:126891512-126894684	SK-N-SH	brain:	n/a	chr7:126894124-126894145 chr7:126892213-126892222 chr7:126892525-126892543 chr7:126893829-126893842 chr7:126893041-126893054 chr7:126894129-126894147 chr7:126892528-126892538 chr7:126892531-126892540 chr7:126892858-126892871
3	BACH1	chr7:126891700-126892211	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr7:126891840-126895028	SK-N-SH	brain:	n/a	chr7:126894675-126894688 chr7:126893040-126893054 chr7:126892861-126892873 chr7:126894127-126894146
5	MAX	chr7:126891783-126892232	H1-hESC	embryonic stem cell:	n/a	chr7:126892102-126892112
6	E2F6	chr7:126891883-126892454	H1-hESC	embryonic stem cell:	n/a	chr7:126892275-126892285
7	ZNF263	chr7:126891685-126894553	HEK293-T-REx	kidney:	n/a	chr7:126894008-126894017 chr7:126893184-126893193 chr7:126894538-126894547
8	GATA2	chr7:126890832-126893276	SH-SY5Y	brain:	n/a	chr7:126892404-126892415
9	SUZ12	chr7:126891007-126892364	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr7:126891260-126894159	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3A	chr7:126891740-126894239	H1-hESC	embryonic stem cell:	n/a	chr7:126892513-126892526 chr7:126894080-126894091 chr7:126894085-126894094 chr7:126891816-126891824 chr7:126893526-126893535 chr7:126892943-126892956
12	ELF1	chr7:126891686-126892444	GM12878	blood:	n/a	chr7:126892125-126892136 chr7:126892126-126892135

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:126891429..126894759-chr7:127030328..127033331,3	K562	blood:
2	chr7:126884896..126891192-chr7:126891657..126895737,6	K562	blood:

Variant related genes	Relation type
GRM8	TF binding region
ENSG00000048405	Chromatin interaction
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10487472	0.86[EUR][1000 genomes]
rs12334074	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862345	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17863257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17864165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17864170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17865066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17865434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17866153	0.86[EUR][1000 genomes]
rs17866414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17866742	0.86[EUR][1000 genomes]
rs17866745	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17866749	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17867232	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17867806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17867809	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17867821	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17869261	1.00[AMR][1000 genomes]
rs17869543	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62468892	0.86[EUR][1000 genomes]
rs62468908	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889189	chr7:126699088-126963028	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv464712	chr7:126881029-126908258	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv608380	chr7:126881029-126908258	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv819682	chr7:126890804-126895155	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126890200-126894400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:126890600-126892400	Active TSS	Brain Substantia Nigra	brain
3	chr7:126890600-126894400	Active TSS	Brain Angular Gyrus	brain
4	chr7:126890800-126892400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
5	chr7:126890800-126894400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr7:126891000-126892400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:126891000-126892600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:126891000-126892800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr7:126891000-126892800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
10	chr7:126891000-126893400	Flanking Active TSS	Liver	Liver
11	chr7:126891200-126892200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:126891200-126892200	Bivalent Enhancer	Placenta	Placenta
13	chr7:126891200-126892800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:126891200-126892800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr7:126891200-126892800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
16	chr7:126891200-126892800	Bivalent Enhancer	Spleen	Spleen
17	chr7:126891200-126894200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:126891400-126892200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:126891400-126892200	Bivalent Enhancer	Fetal Heart	heart
20	chr7:126891400-126892400	Bivalent Enhancer	Fetal Brain Male	brain
21	chr7:126891400-126892600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:126891400-126892800	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr7:126891400-126892800	Flanking Active TSS	Right Ventricle	heart
24	chr7:126891400-126893000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr7:126891400-126894200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr7:126891400-126894200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:126891400-126894200	Active TSS	Brain Cingulate Gyrus	brain
28	chr7:126891400-126894200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:126891400-126894400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr7:126891400-126894600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr7:126891600-126892400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:126891600-126892400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
33	chr7:126891600-126892600	Flanking Active TSS	Pancreas	Pancrea
34	chr7:126891600-126892600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
35	chr7:126891600-126892800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr7:126891600-126892800	Flanking Bivalent TSS/Enh	HMEC	breast
37	chr7:126891600-126893400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:126891600-126893600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:126891600-126894000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:126891600-126894200	Bivalent/Poised TSS	Thymus	Thymus
41	chr7:126891600-126894400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr7:126891600-126894600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:126891800-126892200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr7:126891800-126892200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
45	chr7:126891800-126892200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr7:126891800-126892200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
47	chr7:126891800-126892400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:126891800-126892400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
49	chr7:126891800-126892400	Flanking Active TSS	Gastric	stomach
50	chr7:126891800-126892600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood

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