Variant report

Variant	rs11984014
Chromosome Location	chr7:129253370-129253371
allele	G/T
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	RAD21	chr7:129249773-129253447	SK-N-SH	brain:	n/a	chr7:129251912-129251924
2	HCFC1	chr7:129250633-129253406	Hela-S3	cervix:	n/a	n/a
3	JUN	chr7:129248317-129253489	K562	blood:	n/a	chr7:129253092-129253104 chr7:129249696-129249709 chr7:129253258-129253267 chr7:129249723-129249736

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129040519..129043328-chr7:129251804..129254684,2	MCF-7	breast:
2	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273329	TF binding region
ENSG00000240204	Chromatin interaction

rs_ID	r²[population]
rs12154955	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12531460	0.88[AFR][1000 genomes]
rs12706898	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129250000-129253400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:129250200-129253400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:129250400-129253400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:129250400-129253400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:129250600-129253400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:129252200-129253400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr7:129252200-129253400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr7:129252200-129253400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr7:129252400-129253400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr7:129252400-129253400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:129252400-129253400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr7:129252400-129253400	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr7:129252400-129253400	Flanking Active TSS	Thymus	Thymus
14	chr7:129252400-129253400	Flanking Active TSS	HUVEC	blood vessel
15	chr7:129252600-129253400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:129252600-129253400	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr7:129252600-129253400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr7:129252600-129253400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr7:129252600-129253400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:129252600-129253400	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr7:129252600-129253400	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr7:129252600-129253400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr7:129252600-129253400	Flanking Active TSS	Hela-S3	cervix
24	chr7:129252600-129253400	Flanking Active TSS	HMEC	breast
25	chr7:129252600-129253400	Flanking Active TSS	K562	blood
26	chr7:129252600-129253800	Flanking Active TSS	Dnd41	blood
27	chr7:129252800-129253400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:129252800-129253400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:129252800-129253400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:129252800-129253400	Flanking Active TSS	Osteobl	bone
31	chr7:129252800-129253600	Weak transcription	Small Intestine	intestine
32	chr7:129252800-129255000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:129252800-129285800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:129253000-129253400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:129253000-129253400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:129253000-129253400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:129253000-129253400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:129253000-129253400	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr7:129253000-129253400	Enhancers	Brain Substantia Nigra	brain
40	chr7:129253000-129253400	Flanking Active TSS	A549	lung
41	chr7:129253000-129253400	Flanking Active TSS	HepG2	liver
42	chr7:129253000-129253400	Flanking Active TSS	NHDF-Ad	bronchial
43	chr7:129253000-129253600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:129253000-129253600	Enhancers	Placenta	Placenta
45	chr7:129253000-129254000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr7:129253000-129254000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr7:129253000-129254600	Enhancers	Fetal Brain Male	brain
48	chr7:129253000-129255200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr7:129253000-129255200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:129253000-129256200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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