Variant report

Variant	rs61817695
Chromosome Location	chr1:151879676-151879677
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151861522..151872673-chr1:151876647..151885029,20	MCF-7	breast:
2	chr1:151879069..151881570-chr1:151943407..151945574,2	K562	blood:
3	chr1:151761461..151764001-chr1:151879304..151881821,2	K562	blood:
4	chr1:151879131..151885542-chr1:151961269..151968730,13	MCF-7	breast:
5	chr1:151878724..151881573-chr1:151882113..151884102,2	MCF-7	breast:
6	chr1:151877897..151883557-chr1:152019456..152022411,7	K562	blood:
7	chr1:151879353..151883785-chr1:152005989..152009719,8	K562	blood:
8	chr1:151879656..151883388-chr1:152007614..152010954,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197747	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000229021	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10494270	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11204906	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11204919	0.85[ASN][1000 genomes]
rs11204920	0.85[ASN][1000 genomes]
rs11582739	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12083193	0.81[AMR][1000 genomes]
rs12095483	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12566232	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16833668	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16833669	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16833670	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16833728	0.85[ASN][1000 genomes]
rs16833743	0.81[AMR][1000 genomes]
rs1844543	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2337685	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2337686	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2338206	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28415528	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932580	0.85[ASN][1000 genomes]
rs3791153	0.81[AMR][1000 genomes]
rs56000812	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56028913	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56078223	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56170235	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56313205	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57674198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57785325	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58087484	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61814883	0.85[AMR][1000 genomes]
rs61817697	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61817719	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61817720	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61817722	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61817723	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61817724	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61817725	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6587632	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6587633	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6587634	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6587635	0.85[ASN][1000 genomes]
rs6587636	0.85[ASN][1000 genomes]
rs6587637	0.85[ASN][1000 genomes]
rs6587638	0.85[ASN][1000 genomes]
rs6657658	0.84[ASN][1000 genomes]
rs6659662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6662602	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6662728	0.85[ASN][1000 genomes]
rs6663064	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6672064	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6675930	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6678672	0.82[AMR][1000 genomes]
rs6682605	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6684114	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6684312	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6686874	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6690449	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6693388	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6693396	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6693901	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6695324	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6701374	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703448	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6703465	0.85[ASN][1000 genomes]
rs72694840	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7535002	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7538652	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7541099	0.85[ASN][1000 genomes]
rs7554832	0.85[ASN][1000 genomes]
rs7554859	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs902313	0.85[ASN][1000 genomes]
rs971887	0.85[ASN][1000 genomes]
rs9943221	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9943251	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61817695	THEM4	Cis_1M	lymphoblastoid	RTeQTL
rs61817695	THEM4	cis	multi-tissue	Pritchard

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151831000-151881400	Weak transcription	Ovary	ovary
2	chr1:151841200-151880800	Weak transcription	NHLF	lung
3	chr1:151844400-151881200	Weak transcription	Aorta	Aorta
4	chr1:151854000-151880200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:151860800-151879800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:151861600-151879800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:151862400-151880400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:151864800-151881400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:151866200-151880200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:151866600-151879800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:151868000-151879800	Weak transcription	Liver	Liver
12	chr1:151868000-151880200	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:151868000-151880400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:151868000-151880800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:151871400-151879800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:151871400-151880400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:151872800-151880800	Weak transcription	Right Atrium	heart
18	chr1:151873000-151880800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:151874800-151880400	Weak transcription	Brain Anterior Caudate	brain
20	chr1:151875000-151879800	Weak transcription	Fetal Lung	lung
21	chr1:151876600-151881400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:151877000-151880800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:151877600-151879800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:151877600-151881000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr1:151877800-151880200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:151878000-151879800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:151878000-151879800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:151878000-151880800	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr1:151878200-151879800	Weak transcription	HMEC	breast
30	chr1:151878200-151880200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:151878200-151880800	Weak transcription	NH-A	brain
32	chr1:151878200-151881000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr1:151878200-151881200	Weak transcription	Fetal Heart	heart
34	chr1:151878400-151879800	Weak transcription	Adipose Nuclei	Adipose
35	chr1:151878400-151879800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:151878400-151879800	Weak transcription	Hela-S3	cervix
37	chr1:151878400-151879800	Weak transcription	NHEK	skin
38	chr1:151878400-151880200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:151878400-151880600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:151878400-151880800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr1:151878400-151880800	Weak transcription	Osteobl	bone
42	chr1:151878400-151881000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr1:151878400-151881000	ZNF genes & repeats	Placenta	Placenta
44	chr1:151878600-151879800	Weak transcription	HUVEC	blood vessel
45	chr1:151878600-151879800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:151878600-151880200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:151878600-151880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:151878600-151880800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:151878600-151880800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:151878600-151881000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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