Variant report

Variant	rs13238927
Chromosome Location	chr7:129464791-129464792
allele	A/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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 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	chr7:129007448..129009199-chr7:129463694..129466275,2	MCF-7	breast:
7	chr7:129464687..129467079-chr7:129598257..129600358,2	MCF-7	breast:
8	chr6:41754925..41755738-chr7:129464612..129465357,2	Hela-S3	cervix:
9	chr7:129419383..129421435-chr7:129463555..129465086,2	K562	blood:
10	chr7:129303697..129305648-chr7:129464306..129466248,38	K562	blood:
11	chr7:129250377..129253665-chr7:129464176..129466830,5	MCF-7	breast:
12	chr7:129464031..129466452-chr7:129468201..129471315,4	MCF-7	breast:
13	chr7:129302884..129306085-chr7:129464127..129467247,3	MCF-7	breast:
14	chr7:129385525..129387698-chr7:129463906..129465619,2	K562	blood:
15	chr7:129464300..129465213-chr7:129650676..129651406,2	MCF-7	breast:
16	chr7:129463253..129467439-chr7:129470010..129474375,4	K562	blood:
17	chr7:129303698..129305924-chr7:129463932..129466557,2	MCF-7	breast:
18	chr7:129413450..129422592-chr7:129463248..129466944,22	MCF-7	breast:
19	chr7:129298070..129300835-chr7:129464702..129466571,2	MCF-7	breast:
20	chr7:129304033..129305187-chr7:129464379..129466144,7	MCF-7	breast:
21	chr7:129389134..129391918-chr7:129464788..129466826,2	MCF-7	breast:
22	chr7:129464304..129464879-chr7:129650373..129651310,2	MCF-7	breast:
23	chr7:129418555..129422595-chr7:129463586..129466468,3	K562	blood:
24	chr7:129249743..129251861-chr7:129464508..129466740,2	K562	blood:
25	chr7:129415990..129422927-chr7:129459994..129470946,26	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273329	Chromatin interaction
ENSG00000158467	Chromatin interaction
ENSG00000242078	Chromatin interaction
ENSG00000106459	Chromatin interaction
ENSG00000199158	Chromatin interaction
ENSG00000214736	Chromatin interaction
ENSG00000207691	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13242512	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs34403102	0.83[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129457400-129464800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:129461000-129464800	Weak transcription	Brain Substantia Nigra	brain
3	chr7:129462200-129465200	Weak transcription	Stomach Mucosa	stomach
4	chr7:129462200-129465200	Weak transcription	HSMMtube	muscle
5	chr7:129464200-129464800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:129464400-129464800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
7	chr7:129464400-129464800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:129464400-129464800	Enhancers	Primary B cells from cord blood	blood
9	chr7:129464400-129464800	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:129464400-129464800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr7:129464400-129464800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr7:129464400-129464800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:129464400-129464800	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr7:129464400-129464800	Flanking Active TSS	Hela-S3	cervix
15	chr7:129464400-129465000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:129464400-129465800	Active TSS	Fetal Intestine Large	intestine
17	chr7:129464400-129466000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:129464400-129466000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:129464400-129466000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:129464400-129466000	Active TSS	A549	lung
21	chr7:129464400-129466200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:129464400-129466200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr7:129464400-129466200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:129464400-129466200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:129464400-129466200	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr7:129464400-129466200	Flanking Active TSS	HMEC	breast
27	chr7:129464400-129466400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr7:129464400-129466400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr7:129464400-129466400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:129464600-129464800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:129464600-129464800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:129464600-129464800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:129464600-129464800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:129464600-129464800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr7:129464600-129464800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr7:129464600-129464800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr7:129464600-129464800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:129464600-129464800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:129464600-129464800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr7:129464600-129464800	Enhancers	Brain Cingulate Gyrus	brain
41	chr7:129464600-129464800	Active TSS	Brain Hippocampus Middle	brain
42	chr7:129464600-129464800	Active TSS	Colonic Mucosa	Colon
43	chr7:129464600-129464800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:129464600-129464800	Enhancers	Fetal Brain Male	brain
45	chr7:129464600-129464800	Enhancers	Fetal Heart	heart
46	chr7:129464600-129464800	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr7:129464600-129464800	Enhancers	Placenta	Placenta
48	chr7:129464600-129464800	Flanking Active TSS	Fetal Stomach	stomach
49	chr7:129464600-129464800	Bivalent Enhancer	Fetal Thymus	thymus
50	chr7:129464600-129464800	Enhancers	Gastric	stomach

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