Variant report

Variant	rs12112949
Chromosome Location	chr7:138565859-138565860
allele	A/C/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	GATA2	chr7:138565152-138566225	SH-SY5Y	brain:	n/a	chr7:138566077-138566086 chr7:138565253-138565269
2	GATA3	chr7:138565098-138566011	SH-SY5Y	brain:	n/a	chr7:138565253-138565269
3	MXI1	chr7:138564661-138566601	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138540192..138541943-chr7:138563866..138566000,2	K562	blood:
2	chr7:138565143..138567415-chr7:138569236..138571035,3	MCF-7	breast:

Variant related genes	Relation type
RNU6-1272P	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3807152	1.00[TSI][hapmap]
rs61404233	1.00[AMR][1000 genomes]
rs6968601	1.00[AMR][1000 genomes]
rs9692528	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription 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	19 gene(s)	inside rSNPs	diseases
2	nsv831154	chr7:138470488-138674113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1027143	chr7:138480084-138992900	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv539136	chr7:138480084-138992900	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS 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 target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138521000-138571000	Weak transcription	Brain Anterior Caudate	brain
2	chr7:138523800-138572400	Weak transcription	Fetal Heart	heart
3	chr7:138530800-138566000	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
6	chr7:138539200-138570400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:138542600-138568400	Weak transcription	HepG2	liver
8	chr7:138543000-138569000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:138544600-138574800	Weak transcription	Spleen	Spleen
10	chr7:138545400-138597200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:138546000-138566200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:138546200-138569400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:138546200-138571400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:138549200-138596800	Weak transcription	Aorta	Aorta
15	chr7:138553000-138592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:138554200-138581600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:138554400-138574800	Weak transcription	Esophagus	oesophagus
18	chr7:138555200-138566000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:138555400-138566200	Weak transcription	Gastric	stomach
20	chr7:138555400-138575400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:138555600-138578800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:138556200-138575400	Weak transcription	Ovary	ovary
23	chr7:138556200-138578400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:138558600-138575000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:138558600-138575600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:138559400-138566600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:138559600-138566400	Weak transcription	Fetal Brain Male	brain
28	chr7:138560400-138566200	Strong transcription	Brain Germinal Matrix	brain
29	chr7:138560800-138566600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:138560800-138566600	Strong transcription	Fetal Brain Female	brain
31	chr7:138561200-138566200	Weak transcription	Fetal Thymus	thymus
32	chr7:138561200-138566400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:138561200-138569000	Strong transcription	Fetal Stomach	stomach
34	chr7:138561400-138567200	Strong transcription	HSMMtube	muscle
35	chr7:138561400-138583000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:138561600-138566800	Weak transcription	Thymus	Thymus
37	chr7:138561600-138567000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:138561600-138571000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:138561600-138572600	Weak transcription	A549	lung
40	chr7:138561800-138566600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:138561800-138566800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr7:138561800-138571200	Weak transcription	Osteobl	bone
43	chr7:138561800-138574200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:138561800-138577200	Weak transcription	HSMM	muscle
45	chr7:138562000-138567000	Weak transcription	Dnd41	blood
46	chr7:138562000-138575000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:138562000-138598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:138562000-138598200	Weak transcription	HMEC	breast
49	chr7:138562200-138571400	Weak transcription	NHEK	skin
50	chr7:138562600-138566000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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