Variant report

Variant	rs72755971
Chromosome Location	chr15:83708202-83708203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr15:83707891-83708346	SK-N-SH	brain:	n/a	n/a
2	TCF7L2	chr15:83708013-83708273	MCF-7	breast:	n/a	n/a
3	GATA3	chr15:83707995-83708285	MCF-7	breast:	n/a	n/a
4	GATA3	chr15:83707820-83708320	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:83668024..83670019-chr15:83707664..83709687,2	K562	blood:
2	chr15:83679479..83681361-chr15:83707493..83709575,2	MCF-7	breast:
3	chr15:83706535..83711494-chr15:83875161..83878411,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259308	TF binding region
ENSG00000166503	Chromatin interaction
ENSG00000169609	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs72753974	1.00[AFR][1000 genomes]
rs72755928	1.00[AFR][1000 genomes]
rs72755935	1.00[AFR][1000 genomes]
rs72755947	1.00[AFR][1000 genomes]
rs72755959	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs72755962	1.00[AFR][1000 genomes]
rs72755995	1.00[AFR][1000 genomes]
rs72756000	1.00[AFR][1000 genomes]
rs72758306	1.00[AFR][1000 genomes]
rs72758308	1.00[AFR][1000 genomes]
rs72758310	1.00[AFR][1000 genomes]
rs72758331	1.00[AFR][1000 genomes]
rs72758346	1.00[AFR][1000 genomes]
rs72758350	1.00[AFR][1000 genomes]
rs7496832	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83681200-83710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:83681600-83732000	Weak transcription	Stomach Mucosa	stomach
3	chr15:83682000-83708400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:83682200-83708600	Weak transcription	Fetal Heart	heart
5	chr15:83683000-83723000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:83683400-83726600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:83687600-83709600	Weak transcription	Brain Angular Gyrus	brain
8	chr15:83688800-83708800	Weak transcription	Fetal Brain Male	brain
9	chr15:83689400-83708600	Weak transcription	NHEK	skin
10	chr15:83690000-83708800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:83695400-83714600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:83695800-83715400	Weak transcription	HSMMtube	muscle
13	chr15:83697800-83721000	Strong transcription	Fetal Intestine Large	intestine
14	chr15:83698400-83708600	Weak transcription	Brain Anterior Caudate	brain
15	chr15:83698600-83709600	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:83698800-83708600	Weak transcription	HMEC	breast
17	chr15:83698800-83712000	Weak transcription	Colonic Mucosa	Colon
18	chr15:83699000-83708400	Weak transcription	Pancreas	Pancrea
19	chr15:83699000-83708600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:83699000-83708600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:83699000-83708600	Weak transcription	Placenta	Placenta
22	chr15:83699000-83708800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:83699000-83709000	Weak transcription	Small Intestine	intestine
24	chr15:83699000-83710000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:83699000-83712000	Weak transcription	Gastric	stomach
26	chr15:83699000-83715800	Weak transcription	Brain Substantia Nigra	brain
27	chr15:83699000-83716800	Weak transcription	Aorta	Aorta
28	chr15:83699000-83725800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:83699200-83708600	Weak transcription	Osteobl	bone
30	chr15:83699200-83708800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:83699400-83708800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr15:83699400-83708800	Weak transcription	NH-A	brain
33	chr15:83699600-83708600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:83699800-83709000	Weak transcription	Hela-S3	cervix
35	chr15:83700400-83708600	Weak transcription	Esophagus	oesophagus
36	chr15:83700400-83734400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:83701600-83732800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:83701800-83708600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:83702000-83708600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:83703800-83708600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr15:83704800-83710800	Strong transcription	Primary B cells from cord blood	blood
42	chr15:83705000-83710600	Strong transcription	K562	blood
43	chr15:83705000-83720800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:83705000-83725800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:83705000-83731000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr15:83705200-83715000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:83705200-83720000	Strong transcription	Dnd41	blood
48	chr15:83705400-83708600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:83705400-83708600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:83705400-83708600	Weak transcription	Liver	Liver

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