Variant report

Variant	rs2305565
Chromosome Location	chr11:18317699-18317700
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	GATA3	chr11:18317470-18317925	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18317275..18321739-chr11:18342513..18344758,4	K562	blood:

Variant related genes	Relation type
HPS5	TF binding region
ENSG00000110768	Chromatin interaction
ENSG00000110756	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10766467	0.81[EUR][1000 genomes]
rs10766469	0.82[EUR][1000 genomes]
rs10766471	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10832918	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024605	0.80[ASN][1000 genomes]
rs11024606	0.81[EUR][1000 genomes]
rs11024607	0.80[ASN][1000 genomes]
rs11024608	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024609	0.80[ASN][1000 genomes]
rs11024610	0.80[ASN][1000 genomes]
rs11024611	0.80[ASN][1000 genomes]
rs11024612	0.80[ASN][1000 genomes]
rs11024613	0.80[EUR][1000 genomes]
rs11024614	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024615	0.80[ASN][1000 genomes]
rs11024621	0.80[ASN][1000 genomes]
rs11024622	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12294486	0.82[EUR][1000 genomes]
rs1869786	0.80[ASN][1000 genomes]
rs1869787	0.80[ASN][1000 genomes]
rs2305564	0.82[EUR][1000 genomes]
rs2403254	0.80[EUR][1000 genomes]
rs3781944	0.80[ASN][1000 genomes]
rs4150606	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4150628	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4150644	0.92[ASN][1000 genomes]
rs4366463	0.80[ASN][1000 genomes]
rs4586132	0.80[ASN][1000 genomes]
rs4756938	0.80[ASN][1000 genomes]
rs4757638	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757639	0.80[ASN][1000 genomes]
rs60677587	0.80[ASN][1000 genomes]
rs7122032	0.80[ASN][1000 genomes]
rs7128017	0.80[ASN][1000 genomes]
rs7128146	0.80[ASN][1000 genomes]
rs73430865	0.80[ASN][1000 genomes]
rs73430866	0.80[ASN][1000 genomes]
rs73430881	0.80[ASN][1000 genomes]
rs73430888	0.80[ASN][1000 genomes]
rs73430894	0.80[ASN][1000 genomes]
rs73432712	0.80[ASN][1000 genomes]
rs7478729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2305565	GTF2H1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18287600-18334000	Weak transcription	Right Atrium	heart
2	chr11:18297400-18328400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:18298200-18333800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:18298600-18326200	Strong transcription	Liver	Liver
5	chr11:18298800-18327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:18298800-18331600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:18299200-18322000	Strong transcription	HMEC	breast
8	chr11:18299200-18332400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:18299600-18326200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:18299600-18334200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:18300000-18320600	Strong transcription	Left Ventricle	heart
12	chr11:18300000-18328600	Weak transcription	Stomach Mucosa	stomach
13	chr11:18300000-18334400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:18300200-18320800	Strong transcription	Fetal Intestine Large	intestine
15	chr11:18300200-18323600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:18300200-18333600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:18300200-18334000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:18300200-18334800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:18300200-18336000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:18300600-18323600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:18300600-18331600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:18300600-18332600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:18300600-18333200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:18300600-18334000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:18300800-18328400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:18300800-18330200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:18300800-18333000	Strong transcription	Dnd41	blood
28	chr11:18301000-18320600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr11:18301000-18321800	Strong transcription	HSMM	muscle
30	chr11:18301000-18328000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:18301000-18334400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:18301200-18324400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:18302000-18325000	Strong transcription	HSMMtube	muscle
34	chr11:18302200-18333000	Strong transcription	Adipose Nuclei	Adipose
35	chr11:18303000-18321600	Strong transcription	Placenta	Placenta
36	chr11:18303000-18321600	Strong transcription	A549	lung
37	chr11:18303000-18327000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:18303000-18334800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:18303200-18322600	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:18303200-18325600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:18303200-18334800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:18303400-18335000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr11:18303800-18321000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:18304400-18332000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:18304600-18332000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:18305000-18331600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr11:18305200-18332000	Strong transcription	Primary B cells from cord blood	blood
48	chr11:18305600-18335000	Strong transcription	Primary T cells from cord blood	blood
49	chr11:18305800-18319200	Strong transcription	Fetal Thymus	thymus
50	chr11:18305800-18319400	Strong transcription	Brain Inferior Temporal Lobe	brain

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