Variant report

Variant	rs2693748
Chromosome Location	chr7:129465574-129465575
allele	A/C
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129247321..129249726-chr7:129464736..129466636,2	MCF-7	breast:
2	chr7:129424278..129426243-chr7:129464328..129466216,2	MCF-7	breast:
3	chr7:129366782..129368831-chr7:129463577..129465593,2	MCF-7	breast:
4	chr7:129463919..129466418-chr7:129524712..129526599,2	MCF-7	breast:
5	chr7:129301627..129303933-chr7:129464656..129467241,2	K562	blood:
6	chr7:129413756..129415970-chr7:129465026..129467265,2	MCF-7	breast:
7	chr7:129007448..129009199-chr7:129463694..129466275,2	MCF-7	breast:
8	chr6:27806239..27806872-chr7:129465251..129465855,2	Hela-S3	cervix:
9	chr7:129464687..129467079-chr7:129598257..129600358,2	MCF-7	breast:
10	chr7:129465218..129466979-chr7:129467217..129470017,2	MCF-7	breast:
11	chr7:129303697..129305648-chr7:129464306..129466248,38	K562	blood:
12	chr7:129250377..129253665-chr7:129464176..129466830,5	MCF-7	breast:
13	chr7:129249743..129252439-chr7:129465240..129468029,3	K562	blood:
14	chr7:129407354..129409161-chr7:129465148..129466728,2	K562	blood:
15	chr7:129464031..129466452-chr7:129468201..129471315,4	MCF-7	breast:
16	chr7:129302884..129306085-chr7:129464127..129467247,3	MCF-7	breast:
17	chr7:129385525..129387698-chr7:129463906..129465619,2	K562	blood:
18	chr7:128982629..128983170-chr7:129465243..129465885,2	K562	blood:
19	chr7:129463253..129467439-chr7:129470010..129474375,4	K562	blood:
20	chr7:129380203..129383393-chr7:129464866..129467037,3	MCF-7	breast:
21	chr7:129303698..129305924-chr7:129463932..129466557,2	MCF-7	breast:
22	chr7:129413450..129422592-chr7:129463248..129466944,22	MCF-7	breast:
23	chr7:129465559..129467721-chr7:129591278..129593666,2	MCF-7	breast:
24	chr7:129298070..129300835-chr7:129464702..129466571,2	MCF-7	breast:
25	chr7:129304033..129305187-chr7:129464379..129466144,7	MCF-7	breast:
26	chr7:129389134..129391918-chr7:129464788..129466826,2	MCF-7	breast:
27	chr7:129418555..129422595-chr7:129463586..129466468,3	K562	blood:
28	chr7:129006840..129007756-chr7:129465394..129466260,2	K562	blood:
29	chr7:129249743..129251861-chr7:129464508..129466740,2	K562	blood:
30	chr7:129415990..129422927-chr7:129459994..129470946,26	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199158	Chromatin interaction
ENSG00000106459	Chromatin interaction
ENSG00000207691	Chromatin interaction
ENSG00000273329	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000242078	Chromatin interaction
ENSG00000186591	Chromatin interaction
ENSG00000244036	Chromatin interaction
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1725079	1.00[EUR][1000 genomes]
rs2255639	1.00[EUR][1000 genomes]
rs2631604	1.00[EUR][1000 genomes]
rs2693722	1.00[EUR][1000 genomes]
rs2693740	1.00[EUR][1000 genomes]
rs2693741	1.00[EUR][1000 genomes]
rs2693742	1.00[EUR][1000 genomes]
rs2693743	1.00[EUR][1000 genomes]
rs2693747	1.00[EUR][1000 genomes]
rs2708641	1.00[EUR][1000 genomes]
rs2727457	0.83[AFR][1000 genomes]
rs2727459	1.00[EUR][1000 genomes]
rs2727460	1.00[EUR][1000 genomes]
rs2727461	1.00[EUR][1000 genomes]
rs2727465	1.00[EUR][1000 genomes]
rs2727467	1.00[EUR][1000 genomes]
rs2727476	1.00[EUR][1000 genomes]
rs2727480	1.00[EUR][1000 genomes]
rs2727481	1.00[EUR][1000 genomes]
rs2727485	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727494	1.00[EUR][1000 genomes]
rs2727495	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727501	1.00[EUR][1000 genomes]
rs73469781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73469795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7804954	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers 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	18 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	chr7:129464400-129465800	Active TSS	Fetal Intestine Large	intestine
2	chr7:129464400-129466000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:129464400-129466000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:129464400-129466000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:129464400-129466000	Active TSS	A549	lung
6	chr7:129464400-129466200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:129464400-129466200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr7:129464400-129466200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr7:129464400-129466200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:129464400-129466200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:129464400-129466200	Flanking Active TSS	HMEC	breast
12	chr7:129464400-129466400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:129464400-129466400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr7:129464400-129466400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr7:129464600-129465600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr7:129464600-129465600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr7:129464600-129465600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr7:129464600-129465600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr7:129464600-129465800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:129464600-129465800	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr7:129464600-129465800	Active TSS	Rectal Smooth Muscle	rectum
22	chr7:129464600-129466000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:129464600-129466000	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr7:129464600-129466000	Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:129464600-129466000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:129464600-129466000	Active TSS	Brain Angular Gyrus	brain
27	chr7:129464600-129466000	Active TSS	Brain Anterior Caudate	brain
28	chr7:129464600-129466000	Active TSS	Fetal Brain Female	brain
29	chr7:129464600-129466000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:129464600-129466000	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr7:129464600-129466000	Active TSS	HepG2	liver
32	chr7:129464600-129466000	Active TSS	HSMM	muscle
33	chr7:129464600-129466000	Active TSS	NHLF	lung
34	chr7:129464600-129466200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:129464600-129466200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:129464600-129466200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:129464600-129466200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:129464600-129466200	Active TSS	Aorta	Aorta
39	chr7:129464600-129466200	Active TSS	Esophagus	oesophagus
40	chr7:129464600-129466200	Active TSS	Fetal Kidney	kidney
41	chr7:129464600-129466200	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr7:129464600-129466200	Flanking Active TSS	K562	blood
43	chr7:129464600-129466400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:129464600-129466400	Active TSS	Osteobl	bone
45	chr7:129464800-129465600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr7:129464800-129465600	Active TSS	Fetal Brain Male	brain
47	chr7:129464800-129465600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr7:129464800-129465600	Flanking Active TSS	Placenta	Placenta
49	chr7:129464800-129465600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr7:129464800-129465800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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