Variant report

Variant	rs9785012
Chromosome Location	chr7:25300619-25300620
allele	C/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	SPI1	chr7:25300554-25301006	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:25300355..25300946-chr7:25353811..25354586,2	MCF-7	breast:
2	chr7:25299530..25302516-chr7:25303123..25304940,2	K562	blood:
3	chr7:25300000..25302398-chr7:25671728..25673940,2	K562	blood:

Variant related genes	Relation type
ENSG00000202233	TF binding region
ENSG00000202233	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10216166	1.00[AMR][1000 genomes]
rs10231361	1.00[AMR][1000 genomes]
rs10245125	1.00[AMR][1000 genomes]
rs10248877	1.00[AMR][1000 genomes]
rs10255793	1.00[AMR][1000 genomes]
rs57246232	1.00[AMR][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	nsv606424	chr7:24982529-25466521	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv606426	chr7:25254125-25621579	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25295200-25301000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:25295800-25301000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:25296200-25300800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:25298800-25302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:25299000-25302000	Enhancers	Colon Smooth Muscle	Colon
6	chr7:25299200-25300800	Enhancers	Fetal Muscle Leg	muscle
7	chr7:25299200-25300800	Enhancers	Rectal Smooth Muscle	rectum
8	chr7:25299200-25300800	Enhancers	Thymus	Thymus
9	chr7:25299200-25301000	Enhancers	Brain Hippocampus Middle	brain
10	chr7:25299200-25301400	Enhancers	Fetal Kidney	kidney
11	chr7:25299200-25301600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:25299200-25301600	Enhancers	Fetal Lung	lung
13	chr7:25299200-25302200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:25299200-25303800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr7:25299400-25300800	Enhancers	Fetal Stomach	stomach
16	chr7:25299400-25301400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:25299400-25302000	Enhancers	Fetal Thymus	thymus
18	chr7:25299600-25300800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr7:25299600-25301200	Weak transcription	Fetal Intestine Small	intestine
20	chr7:25299600-25301400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:25299600-25302000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:25299600-25302000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:25299800-25300800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:25299800-25301000	Enhancers	Dnd41	blood
25	chr7:25299800-25301000	Weak transcription	NH-A	brain
26	chr7:25299800-25302200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:25300000-25300800	Enhancers	HSMM	muscle
28	chr7:25300000-25301400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:25300200-25300800	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr7:25300200-25301400	Weak transcription	Fetal Heart	heart
31	chr7:25300200-25301600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:25300200-25301600	Weak transcription	Brain Anterior Caudate	brain
33	chr7:25300400-25300800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr7:25300400-25300800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr7:25300400-25301000	Enhancers	Brain Substantia Nigra	brain
36	chr7:25300400-25301000	Enhancers	Fetal Brain Female	brain
37	chr7:25300400-25301200	Bivalent Enhancer	Primary B cells from cord blood	blood
38	chr7:25300400-25301200	Enhancers	NHEK	skin
39	chr7:25300400-25301400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:25300400-25301400	Weak transcription	Brain Germinal Matrix	brain
41	chr7:25300400-25301800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:25300400-25301800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:25300600-25300800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:25300600-25300800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:25300600-25300800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr7:25300600-25300800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:25300600-25300800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr7:25300600-25300800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr7:25300600-25300800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr7:25300600-25300800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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