Variant report

Variant	rs2075114
Chromosome Location	chr7:105336922-105336923
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	POLR2A	chr7:105336445-105338158	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ATXN7L1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11971669	1.00[CEU][hapmap]
rs11974376	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs12705321	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223425	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13223649	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13227308	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13228177	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34803070	0.84[EUR][1000 genomes]
rs35261043	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3887375	1.00[CEU][hapmap]
rs567003	0.83[ASN][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	nsv528739	chr7:105318058-105346117	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105330400-105352200	Weak transcription	Gastric	stomach
2	chr7:105331600-105340600	Weak transcription	Spleen	Spleen
3	chr7:105331800-105338600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:105332200-105353200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:105332400-105337800	Weak transcription	Lung	lung
6	chr7:105332600-105339200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:105332600-105347600	Weak transcription	Ovary	ovary
8	chr7:105332600-105348000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:105332600-105348400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:105332600-105352200	Weak transcription	Aorta	Aorta
11	chr7:105332800-105337400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:105332800-105338000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:105332800-105343800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:105332800-105343800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:105332800-105344000	Weak transcription	Brain Anterior Caudate	brain
16	chr7:105332800-105344000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:105332800-105344000	Weak transcription	NHDF-Ad	bronchial
18	chr7:105332800-105347000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:105332800-105347000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:105332800-105347000	Weak transcription	Fetal Lung	lung
21	chr7:105332800-105347600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:105332800-105347800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:105332800-105347800	Weak transcription	Pancreas	Pancrea
24	chr7:105332800-105347800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:105332800-105348200	Weak transcription	Fetal Heart	heart
26	chr7:105332800-105348200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:105332800-105348400	Weak transcription	Adipose Nuclei	Adipose
28	chr7:105332800-105348400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:105332800-105349800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:105332800-105350200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:105332800-105351400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:105332800-105351600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:105332800-105352000	Weak transcription	Colonic Mucosa	Colon
34	chr7:105333000-105350400	Weak transcription	Fetal Brain Female	brain
35	chr7:105333400-105338400	Weak transcription	Placenta	Placenta
36	chr7:105333400-105346000	Weak transcription	Right Atrium	heart
37	chr7:105333400-105347800	Weak transcription	Primary T cells from cord blood	blood
38	chr7:105333400-105348000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:105333600-105348000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr7:105334400-105337600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:105334400-105347400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:105334600-105347800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:105334600-105347800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:105334600-105348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:105334800-105347400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr7:105335000-105337000	Strong transcription	Fetal Intestine Large	intestine
47	chr7:105335800-105337000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:105335800-105337000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:105335800-105337000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:105335800-105337000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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