Variant report

Variant	rs1061280
Chromosome Location	chr7:128853123-128853124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128694094..128696181-chr7:128851844..128853583,2	K562	blood:
2	chr7:128849557..128852141-chr7:128852235..128854201,2	K562	blood:

Variant related genes	Relation type
ENSG00000064419	Chromatin interaction
ENSG00000230359	Chromatin interaction
ENSG00000128602	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1061285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13237986	0.84[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.95[ASN][1000 genomes]
rs2075777	0.90[ASN][1000 genomes]
rs2075778	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.91[ASN][1000 genomes]
rs2075779	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.91[ASN][1000 genomes]
rs2075780	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228617	0.84[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs2566872	0.91[ASN][1000 genomes]
rs2701316	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2703091	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.91[ASN][1000 genomes]
rs2703093	0.93[ASN][1000 genomes]
rs2718110	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2718111	0.80[EUR][1000 genomes]
rs2735842	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.93[ASN][1000 genomes]
rs2735843	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2735844	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.93[ASN][1000 genomes]
rs3824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45446391	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4728158	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728160	0.82[GIH][hapmap];0.88[JPT][hapmap];0.81[TSI][hapmap]
rs4731563	0.88[JPT][hapmap]
rs9607	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.94[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	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1061280	KLHDC10	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128830600-128861800	Weak transcription	Thymus	Thymus
2	chr7:128834600-128853800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:128839600-128853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:128840800-128854200	Strong transcription	Fetal Stomach	stomach
5	chr7:128841400-128853400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:128841400-128855600	Weak transcription	HSMM	muscle
7	chr7:128842000-128853400	Strong transcription	Fetal Intestine Small	intestine
8	chr7:128842400-128853400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:128842400-128864000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:128843000-128853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:128843000-128853400	Strong transcription	Fetal Muscle Leg	muscle
12	chr7:128843200-128853400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:128843200-128864000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:128843400-128864200	Weak transcription	Spleen	Spleen
15	chr7:128843600-128858200	Weak transcription	Dnd41	blood
16	chr7:128843800-128853800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:128844400-128853200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:128844600-128853200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:128844600-128853400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:128844600-128853400	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:128844600-128863800	Weak transcription	Fetal Brain Male	brain
22	chr7:128844800-128853200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:128844800-128853200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:128844800-128864000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:128845000-128853200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:128845400-128853200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:128845800-128863600	Weak transcription	Colonic Mucosa	Colon
28	chr7:128846200-128853600	Weak transcription	HSMMtube	muscle
29	chr7:128846600-128858400	Weak transcription	Left Ventricle	heart
30	chr7:128846600-128862200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:128847000-128854000	Weak transcription	GM12878-XiMat	blood
32	chr7:128847200-128864000	Weak transcription	Psoas Muscle	Psoas
33	chr7:128847600-128854600	Weak transcription	NHLF	lung
34	chr7:128847600-128858400	Weak transcription	Adipose Nuclei	Adipose
35	chr7:128847600-128864000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:128848400-128853200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:128848400-128853200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:128848400-128853400	Strong transcription	Ovary	ovary
39	chr7:128848600-128853200	Strong transcription	Fetal Lung	lung
40	chr7:128849200-128853800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:128849400-128855400	Weak transcription	Aorta	Aorta
42	chr7:128849600-128858600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:128849800-128864000	Weak transcription	Fetal Kidney	kidney
44	chr7:128850200-128853400	Weak transcription	Fetal Thymus	thymus
45	chr7:128850400-128854200	Weak transcription	NHEK	skin
46	chr7:128850600-128853200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:128850800-128853800	Weak transcription	Gastric	stomach
48	chr7:128850800-128853800	Weak transcription	Right Atrium	heart
49	chr7:128850800-128854000	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:128850800-128858200	Weak transcription	Brain Anterior Caudate	brain

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