Variant report

Variant	rs10253733
Chromosome Location	chr7:6228976-6228977
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6097168..6098982-chr7:6228350..6229954,2	MCF-7	breast:
2	chr7:6218147..6221120-chr7:6228782..6230937,2	K562	blood:

Variant related genes	Relation type
ENSG00000086232	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10224504	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10240988	0.92[AFR][1000 genomes]
rs10241174	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10247585	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264140	0.90[ASN][1000 genomes]
rs10275021	0.93[EUR][1000 genomes]
rs10951976	0.90[ASN][1000 genomes]
rs10951977	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12669486	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34123833	0.83[ASN][1000 genomes]
rs58466335	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS 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	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv5629	chr7:6217866-6263131	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6202000-6230600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:6202400-6238000	Weak transcription	Fetal Kidney	kidney
3	chr7:6207800-6229800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:6209600-6230000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:6210000-6230000	Weak transcription	Brain Substantia Nigra	brain
6	chr7:6210800-6229600	Weak transcription	Colonic Mucosa	Colon
7	chr7:6210800-6230000	Strong transcription	Fetal Stomach	stomach
8	chr7:6211800-6237800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:6212200-6237800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:6212600-6231000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:6212800-6238200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:6213000-6231200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:6213200-6240600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:6215800-6231400	Weak transcription	Hela-S3	cervix
15	chr7:6216800-6229600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:6216800-6237000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:6216800-6237800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:6217600-6231600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:6217800-6230800	Weak transcription	NH-A	brain
20	chr7:6218600-6230000	Strong transcription	Placenta	Placenta
21	chr7:6218600-6231600	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:6218800-6232000	Weak transcription	Stomach Mucosa	stomach
23	chr7:6219000-6230000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:6219000-6233000	Weak transcription	Fetal Heart	heart
25	chr7:6219400-6231600	Strong transcription	Fetal Intestine Small	intestine
26	chr7:6219600-6238000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:6219600-6241800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:6219600-6243000	Weak transcription	K562	blood
29	chr7:6219800-6241800	Weak transcription	Pancreas	Pancrea
30	chr7:6220200-6232600	Weak transcription	Right Atrium	heart
31	chr7:6220800-6229800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:6221200-6229800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:6221400-6238400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:6221800-6230000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr7:6222000-6229800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:6222000-6230000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:6222400-6229200	Strong transcription	Fetal Muscle Leg	muscle
38	chr7:6222400-6229800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:6222400-6229800	Strong transcription	Fetal Intestine Large	intestine
40	chr7:6222800-6229800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:6222800-6235600	Weak transcription	Psoas Muscle	Psoas
42	chr7:6224800-6229400	Strong transcription	Gastric	stomach
43	chr7:6224800-6229400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:6225000-6229800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:6225400-6229800	Strong transcription	NHLF	lung
46	chr7:6225400-6229800	Strong transcription	Osteobl	bone
47	chr7:6225400-6230000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr7:6225800-6229800	Strong transcription	Fetal Brain Female	brain
49	chr7:6225800-6229800	Strong transcription	HSMMtube	muscle
50	chr7:6225800-6230000	Strong transcription	Adipose Nuclei	Adipose

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