Variant report

Variant	rs7974706
Chromosome Location	chr12:124450929-124450930
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	JUN	chr12:124450853-124452666	K562	blood:	n/a	chr12:124451825-124451833 chr12:124451824-124451834 chr12:124451825-124451832 chr12:124451824-124451834 chr12:124451825-124451833 chr12:124451824-124451834 chr12:124451824-124451834

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
2	chr12:124450274..124453930-chr12:124454051..124458606,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAH10OS-5	chr12:124450624-124451176	ENSG00000269997.1

Variant related genes	Relation type
ENSG00000270048	TF binding region
ENSG00000119242	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000178882	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1686736	0.81[AFR][1000 genomes]
rs4930720	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs707335	1.00[AFR][1000 genomes]
rs825470	0.88[AFR][1000 genomes]
rs825478	0.88[AFR][1000 genomes]
rs825506	1.00[YRI][hapmap]
rs825511	1.00[AFR][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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 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	chr12:124427000-124455000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
3	chr12:124427800-124453400	Weak transcription	A549	lung
4	chr12:124428400-124455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:124428400-124456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:124428800-124455800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:124430000-124454800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:124430000-124456200	Weak transcription	Fetal Thymus	thymus
9	chr12:124430200-124453400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:124430200-124455600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:124430400-124454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:124430400-124455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:124430400-124456000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:124430400-124456000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:124430400-124456000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:124430600-124452600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:124430600-124456200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:124431800-124455800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:124434400-124456200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:124435400-124456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:124435600-124451000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:124435600-124456000	Weak transcription	Placenta	Placenta
23	chr12:124435800-124456200	Weak transcription	Pancreas	Pancrea
24	chr12:124436200-124453200	Weak transcription	Fetal Brain Male	brain
25	chr12:124436400-124453200	Weak transcription	Brain Substantia Nigra	brain
26	chr12:124436400-124454600	Weak transcription	Brain Germinal Matrix	brain
27	chr12:124436400-124455000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:124436400-124455800	Weak transcription	Brain Angular Gyrus	brain
29	chr12:124436400-124456000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:124436600-124452000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:124437000-124456200	Weak transcription	Gastric	stomach
32	chr12:124437200-124451000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:124437200-124453400	Weak transcription	Adipose Nuclei	Adipose
34	chr12:124437600-124451000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:124437600-124451000	Weak transcription	NHLF	lung
36	chr12:124442200-124453200	Weak transcription	Primary B cells from cord blood	blood
37	chr12:124443800-124453200	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:124443800-124453400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:124443800-124455600	Weak transcription	Fetal Heart	heart
40	chr12:124443800-124455800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:124443800-124456000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:124443800-124456000	Weak transcription	Fetal Kidney	kidney
43	chr12:124444000-124454600	Weak transcription	HepG2	liver
44	chr12:124445000-124454600	Weak transcription	Fetal Brain Female	brain
45	chr12:124445000-124456000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:124445400-124451200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:124446400-124451200	Weak transcription	Right Ventricle	heart
48	chr12:124446400-124456200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:124446800-124455800	Weak transcription	Stomach Mucosa	stomach
50	chr12:124447400-124453400	Weak transcription	Brain Anterior Caudate	brain

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