Variant report

Variant	rs17445328
Chromosome Location	chr10:94305189-94305190
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	GATA3	chr10:94305161-94305500	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr10:94305070-94305606	MCF-7	breast:	n/a	n/a
3	GATA3	chr10:94305173-94305550	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:94300885..94308768-chr10:94330971..94336052,7	K562	blood:
2	chr10:94301008..94306280-chr10:94330329..94333980,6	MCF-7	breast:
3	chr10:94302688..94305246-chr10:94317685..94320149,2	MCF-7	breast:
4	chr10:94303916..94306859-chr10:94326887..94328763,2	K562	blood:

Variant related genes	Relation type
IDE	TF binding region
ENSG00000119912	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10736069	0.83[YRI][hapmap]
rs10786050	0.85[YRI][hapmap]
rs10882091	0.87[YRI][hapmap]
rs10882094	0.87[YRI][hapmap]
rs11187001	0.83[AMR][1000 genomes]
rs11187009	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11187025	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11187027	0.86[ASN][1000 genomes]
rs11187031	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11187032	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11187040	0.86[ASN][1000 genomes]
rs11187064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187065	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11187067	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11187069	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11187070	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11187073	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12358677	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12776190	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17445028	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2421941	0.82[AFR][1000 genomes]
rs35120790	0.83[AMR][1000 genomes]
rs35418143	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35616984	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4646953	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4646955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56289118	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61861406	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6583830	0.87[YRI][hapmap]
rs72811205	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7900689	0.87[YRI][hapmap]
rs7914814	0.87[YRI][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	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94250200-94313800	Weak transcription	Brain Substantia Nigra	brain
2	chr10:94250400-94307400	Weak transcription	Spleen	Spleen
3	chr10:94262000-94307400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:94267600-94314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:94267800-94328800	Weak transcription	Fetal Heart	heart
6	chr10:94268000-94313800	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:94268000-94313800	Weak transcription	NHLF	lung
8	chr10:94269400-94314000	Weak transcription	Aorta	Aorta
9	chr10:94269600-94314000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:94272000-94317200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr10:94272200-94313800	Weak transcription	HSMMtube	muscle
12	chr10:94272200-94332000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:94272200-94332200	Weak transcription	Gastric	stomach
14	chr10:94272400-94313600	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:94272800-94313200	Weak transcription	Fetal Brain Female	brain
16	chr10:94277200-94313800	Weak transcription	Brain Angular Gyrus	brain
17	chr10:94277200-94331200	Weak transcription	Stomach Mucosa	stomach
18	chr10:94277800-94332200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr10:94289600-94313200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr10:94290400-94318800	Weak transcription	Right Ventricle	heart
21	chr10:94290800-94313800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:94291400-94313800	Weak transcription	HSMM	muscle
23	chr10:94292800-94313800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:94294000-94313400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr10:94294400-94313800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:94294600-94307200	Weak transcription	A549	lung
27	chr10:94294600-94313800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr10:94294800-94313600	Weak transcription	NHDF-Ad	bronchial
29	chr10:94295000-94313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:94295400-94318000	Weak transcription	NH-A	brain
31	chr10:94295600-94313400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr10:94295600-94313600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:94295600-94313800	Weak transcription	Thymus	Thymus
34	chr10:94295600-94313800	Weak transcription	Osteobl	bone
35	chr10:94295600-94318600	Weak transcription	Fetal Kidney	kidney
36	chr10:94295800-94307600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:94295800-94311400	Weak transcription	HepG2	liver
38	chr10:94295800-94313800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr10:94295800-94313800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:94295800-94313800	Weak transcription	Small Intestine	intestine
41	chr10:94296000-94309400	Weak transcription	Fetal Intestine Small	intestine
42	chr10:94296000-94313200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr10:94296000-94313400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:94296000-94313400	Weak transcription	Fetal Muscle Leg	muscle
45	chr10:94296000-94313600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr10:94296000-94313600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr10:94296000-94313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr10:94296000-94314000	Weak transcription	Fetal Intestine Large	intestine
49	chr10:94296000-94314000	Weak transcription	Lung	lung
50	chr10:94296200-94311400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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