Variant report

Variant	rs2768283
Chromosome Location	chr9:108295223-108295224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:108293123..108295259-chr9:108297045..108298602,2	K562	blood:
2	chr9:108294400..108296396-chr9:108300252..108301863,2	K562	blood:
3	chr6:26020975..26022487-chr9:108293972..108296238,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196176	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10115299	0.86[EUR][1000 genomes]
rs10761100	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10816278	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10820809	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10820810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10820812	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10820813	0.92[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1327354	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1360089	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1806898	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1815383	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1960023	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1987634	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2225246	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2427769	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2518106	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs2518112	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518114	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518116	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2518120	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2518123	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2518124	0.93[ASN][1000 genomes]
rs2518128	0.88[CEU][hapmap];0.81[CHB][hapmap];0.93[EUR][1000 genomes]
rs2518131	0.96[CEU][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2768279	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2768280	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2768290	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2768291	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2768292	0.93[ASN][1000 genomes]
rs2768294	0.96[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2771038	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2771041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2771042	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2812297	0.84[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2812303	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2812307	0.92[ASN][1000 genomes]
rs2812308	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2812310	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4742650	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4742947	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4742948	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6477447	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6477449	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7020083	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7357632	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7864020	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053973	chr9:108199177-108300186	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv615115	chr9:108205262-108298183	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv893692	chr9:108218852-108320988	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
4	nsv1050141	chr9:108219667-108317424	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
5	nsv1049133	chr9:108292302-108356068	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108214600-108309800	Weak transcription	HUVEC	blood vessel
2	chr9:108222600-108311400	Weak transcription	Fetal Heart	heart
3	chr9:108231800-108296800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:108242600-108300000	Weak transcription	Brain Anterior Caudate	brain
5	chr9:108268200-108306000	Weak transcription	Brain Angular Gyrus	brain
6	chr9:108272800-108304600	Weak transcription	NHEK	skin
7	chr9:108274400-108299800	Weak transcription	Fetal Lung	lung
8	chr9:108276200-108309200	Weak transcription	Lung	lung
9	chr9:108278800-108296600	Weak transcription	A549	lung
10	chr9:108278800-108297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:108278800-108305800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:108279000-108296000	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:108279000-108311400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:108279000-108317600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:108279200-108297400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:108279200-108313000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:108279400-108296800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:108279600-108296800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:108280200-108297200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:108282400-108296400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:108282400-108296800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:108282400-108296800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:108282400-108297600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:108282400-108299600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:108282400-108300000	Weak transcription	HSMMtube	muscle
26	chr9:108282400-108302800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:108282400-108302800	Weak transcription	HSMM	muscle
28	chr9:108282400-108312400	Weak transcription	HepG2	liver
29	chr9:108282400-108319800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr9:108282400-108319800	Weak transcription	Left Ventricle	heart
31	chr9:108282400-108319800	Weak transcription	Psoas Muscle	Psoas
32	chr9:108282600-108319800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:108285200-108296800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:108289200-108306200	Weak transcription	Fetal Brain Male	brain
35	chr9:108289800-108309800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:108290000-108298800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr9:108290800-108296400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:108291000-108296200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:108291000-108296400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:108291400-108297200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:108291800-108310200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:108292200-108295400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:108292600-108296800	Weak transcription	NHLF	lung
44	chr9:108292600-108305600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:108292600-108319800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr9:108292800-108295600	Enhancers	Dnd41	blood
47	chr9:108293600-108299800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:108293800-108295400	Enhancers	NHDF-Ad	bronchial
49	chr9:108293800-108319800	Weak transcription	Liver	Liver
50	chr9:108294000-108297000	Weak transcription	Adipose Nuclei	Adipose

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