Variant report

Variant	rs11630804
Chromosome Location	chr15:77398939-77398940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77397830..77402873-chr15:77403837..77409871,6	K562	blood:
2	chr15:77387810..77390189-chr15:77398200..77400014,2	MCF-7	breast:
3	chr15:77361896..77364276-chr15:77398497..77401504,3	MCF-7	breast:
4	chr15:77395363..77399207-chr15:77399512..77402124,4	MCF-7	breast:
5	chr15:77363355..77365975-chr15:77397364..77401294,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140391	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11630770	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904882	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34129891	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028830	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv904414	chr15:77304310-77400388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77387000-77404200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:77390200-77404200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:77390400-77406400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:77393600-77399600	Weak transcription	Brain Anterior Caudate	brain
5	chr15:77393800-77403400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:77394000-77399800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:77394400-77399200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:77394400-77399400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:77394600-77404200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:77394600-77413400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:77395200-77404800	Weak transcription	HepG2	liver
12	chr15:77395800-77400000	Weak transcription	Fetal Intestine Large	intestine
13	chr15:77396000-77399800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr15:77396200-77401000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:77396200-77404200	Weak transcription	Fetal Lung	lung
16	chr15:77396400-77401200	Enhancers	Fetal Muscle Leg	muscle
17	chr15:77396600-77399400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:77396600-77399400	Weak transcription	Fetal Intestine Small	intestine
19	chr15:77396600-77404800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:77396800-77399000	Weak transcription	Fetal Stomach	stomach
21	chr15:77396800-77399400	Weak transcription	Ovary	ovary
22	chr15:77396800-77399400	Weak transcription	Right Ventricle	heart
23	chr15:77397000-77399200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:77397000-77399200	Weak transcription	Brain Substantia Nigra	brain
25	chr15:77397000-77399200	Weak transcription	Osteobl	bone
26	chr15:77397000-77399400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:77397000-77399400	Weak transcription	Right Atrium	heart
28	chr15:77397000-77399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:77397000-77404200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:77397200-77399000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:77397200-77399200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:77397200-77399200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:77397200-77399400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:77397400-77399400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:77397400-77399400	Weak transcription	NHLF	lung
36	chr15:77397400-77399800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:77397600-77399200	Weak transcription	NHDF-Ad	bronchial
38	chr15:77397600-77399600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:77397600-77399800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr15:77397600-77404200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:77397600-77405600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:77397600-77406200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:77397600-77411200	Weak transcription	HUVEC	blood vessel
44	chr15:77397800-77411400	Weak transcription	Fetal Thymus	thymus
45	chr15:77398000-77399000	Weak transcription	Adipose Nuclei	Adipose
46	chr15:77398000-77399200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr15:77398000-77399200	Weak transcription	Brain Angular Gyrus	brain
48	chr15:77398000-77399800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:77398000-77411600	Weak transcription	Fetal Brain Female	brain
50	chr15:77398200-77399000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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