Variant report

Variant	rs946278
Chromosome Location	chr1:9875347-9875348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10864436	0.90[EUR][1000 genomes]
rs11121492	0.94[EUR][1000 genomes]
rs11121493	0.86[EUR][1000 genomes]
rs1141402	0.81[AFR][1000 genomes]
rs11806520	0.80[EUR][1000 genomes]
rs12025864	0.85[AFR][1000 genomes]
rs12034239	0.83[EUR][1000 genomes]
rs12034313	0.84[AFR][1000 genomes]
rs12078414	0.80[EUR][1000 genomes]
rs12087051	0.83[EUR][1000 genomes]
rs1228434	0.86[EUR][1000 genomes]
rs1631962	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17034335	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17034340	0.94[EUR][1000 genomes]
rs1767271	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1767277	0.80[EUR][1000 genomes]
rs2788605	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280776	0.89[ASN][1000 genomes]
rs4585981	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57480158	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57560942	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59729812	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6699320	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72855733	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72855735	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72855745	0.83[EUR][1000 genomes]
rs72855747	0.83[EUR][1000 genomes]
rs767762	0.80[EUR][1000 genomes]
rs935071	0.83[EUR][1000 genomes]
rs946277	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9859000-9881800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:9859000-9882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:9859400-9881600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:9860400-9878600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:9865000-9882200	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:9865400-9881600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:9865600-9877000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:9865600-9879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:9865600-9880800	Weak transcription	Hela-S3	cervix
10	chr1:9865600-9882200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:9866400-9880600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:9868200-9882600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:9868400-9880800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:9868400-9880800	Weak transcription	Primary T cells from cord blood	blood
15	chr1:9868400-9882600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:9869200-9880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:9869200-9882600	Weak transcription	Esophagus	oesophagus
18	chr1:9869400-9882600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:9869600-9877000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:9869600-9877000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:9869600-9877000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:9869600-9880200	Weak transcription	Dnd41	blood
23	chr1:9869600-9881600	Weak transcription	Fetal Stomach	stomach
24	chr1:9869600-9882000	Weak transcription	NHLF	lung
25	chr1:9869600-9882400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:9869800-9875600	Weak transcription	Spleen	Spleen
27	chr1:9869800-9877000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:9869800-9877000	Weak transcription	Ovary	ovary
29	chr1:9869800-9879600	Weak transcription	GM12878-XiMat	blood
30	chr1:9869800-9882200	Weak transcription	Fetal Thymus	thymus
31	chr1:9869800-9882400	Weak transcription	Thymus	Thymus
32	chr1:9869800-9882600	Weak transcription	Right Atrium	heart
33	chr1:9869800-9882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:9870000-9881600	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:9870000-9882400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:9870200-9880800	Weak transcription	HMEC	breast
37	chr1:9870400-9880200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:9870600-9875600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:9870600-9880200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:9871400-9880400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:9871600-9876200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:9871600-9881600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:9871800-9880600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:9871800-9881800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:9871800-9881800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:9871800-9881800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:9872400-9875400	Weak transcription	Brain Angular Gyrus	brain
48	chr1:9872400-9880200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:9872400-9880600	Weak transcription	Fetal Brain Male	brain
50	chr1:9872400-9881800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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