Variant report

Variant	rs7801894
Chromosome Location	chr7:12755719-12755720
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12725982..12739416-chr7:12748956..12757396,41	K562	blood:
2	chr7:12755311..12757060-chr7:14029862..14032412,2	K562	blood:
3	chr7:12752442..12758611-chr7:12777091..12782449,9	K562	blood:
4	chr7:12753064..12757665-chr7:12839772..12843667,5	K562	blood:
5	chr7:12752598..12755770-chr7:12846803..12850536,3	K562	blood:
6	chr7:12754316..12756005-chr7:12789154..12791426,2	K562	blood:
7	chr7:12755272..12756942-chr7:13055576..13058177,2	K562	blood:
8	chr7:12558451..12560515-chr7:12754100..12757020,2	K562	blood:
9	chr7:12753829..12756201-chr7:12954275..12956490,2	K562	blood:
10	chr7:12755040..12757208-chr7:13001272..13003633,2	K562	blood:
11	chr7:12755378..12757741-chr7:14022660..14025272,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006468	Chromatin interaction
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10488229	0.86[EUR][1000 genomes]
rs10950412	0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11981235	0.87[EUR][1000 genomes]
rs11981294	0.87[EUR][1000 genomes]
rs1546770	0.84[AFR][1000 genomes]
rs2217801	0.80[CEU][hapmap]
rs4410798	0.87[EUR][1000 genomes]
rs6949140	0.86[EUR][1000 genomes]
rs6967467	0.87[EUR][1000 genomes]
rs6970019	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats 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 target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv887641	chr7:12747443-12782062	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12752800-12756800	Enhancers	Fetal Intestine Large	intestine
2	chr7:12753400-12756600	Enhancers	Stomach Mucosa	stomach
3	chr7:12753600-12757000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:12754600-12756800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:12754800-12755800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:12754800-12755800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:12754800-12756000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:12754800-12756200	Enhancers	Colonic Mucosa	Colon
9	chr7:12754800-12756800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:12754800-12756800	Enhancers	Small Intestine	intestine
11	chr7:12754800-12760400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:12755000-12755800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:12755000-12755800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr7:12755000-12755800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:12755000-12755800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr7:12755000-12755800	Active TSS	Brain Angular Gyrus	brain
17	chr7:12755000-12755800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr7:12755000-12755800	Flanking Active TSS	Dnd41	blood
19	chr7:12755000-12755800	Flanking Active TSS	Hela-S3	cervix
20	chr7:12755000-12755800	Flanking Active TSS	HMEC	breast
21	chr7:12755000-12755800	Flanking Active TSS	HUVEC	blood vessel
22	chr7:12755000-12755800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr7:12755000-12755800	Enhancers	NHEK	skin
24	chr7:12755000-12755800	Enhancers	NHLF	lung
25	chr7:12755000-12755800	Flanking Active TSS	Osteobl	bone
26	chr7:12755000-12756000	Enhancers	Primary hematopoietic stem cells	blood
27	chr7:12755000-12756000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:12755000-12756000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:12755000-12756200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr7:12755000-12756200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:12755000-12756200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr7:12755000-12756200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:12755000-12756200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:12755000-12756200	Enhancers	Esophagus	oesophagus
35	chr7:12755000-12756200	Enhancers	Fetal Brain Female	brain
36	chr7:12755000-12756200	Enhancers	Fetal Thymus	thymus
37	chr7:12755000-12756200	Flanking Active TSS	NH-A	brain
38	chr7:12755000-12756400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr7:12755000-12756400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr7:12755000-12756400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:12755000-12756600	Enhancers	Primary T cells from cord blood	blood
42	chr7:12755000-12756600	Enhancers	Fetal Stomach	stomach
43	chr7:12755000-12756800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:12755000-12756800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:12755200-12755800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr7:12755200-12755800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:12755200-12755800	Flanking Active TSS	Fetal Kidney	kidney
48	chr7:12755200-12755800	Flanking Active TSS	NHDF-Ad	bronchial
49	chr7:12755200-12756000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr7:12755200-12756000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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