Variant report

Variant	rs9943251
Chromosome Location	chr1:151917115-151917116
allele	A/G
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	chr1:151911549..151914753-chr1:151917047..151920046,3	K562	blood:
2	chr1:151881300..151883232-chr1:151916135..151919010,3	K562	blood:
3	chr1:151915835..151920651-chr1:152004121..152010886,7	MCF-7	breast:
4	chr1:151912468..151914672-chr1:151915878..151918537,2	MCF-7	breast:
5	chr1:151880767..151883017-chr1:151916135..151918351,3	K562	blood:
6	chr1:151902230..151904695-chr1:151916029..151918681,2	K562	blood:
7	chr1:151916833..151917793-chr1:161284099..161284674,2	Hela-S3	cervix:
8	chr1:151912762..151919992-chr1:151963219..151969467,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000159445	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000197747	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1038747	0.85[CHB][hapmap]
rs10494270	0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11204906	0.87[AMR][1000 genomes]
rs11204915	0.87[CHB][hapmap]
rs11204919	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11204920	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11582739	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12083193	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12095483	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12116923	0.88[CHB][hapmap]
rs12566232	0.83[AMR][1000 genomes]
rs16833668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16833669	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16833670	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16833728	0.81[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16833743	0.87[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1844543	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1979637	0.85[JPT][hapmap]
rs2279501	0.88[CHB][hapmap]
rs2279502	0.93[CHB][hapmap]
rs2337685	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2337686	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2338206	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28415528	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2932579	0.87[CHB][hapmap]
rs2932580	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932590	0.87[CHB][hapmap]
rs2999526	0.87[CHB][hapmap]
rs2999528	0.87[CHB][hapmap]
rs2999531	0.80[CHB][hapmap]
rs2999542	0.87[CHB][hapmap]
rs2999544	0.87[CHB][hapmap]
rs3007685	0.87[CHB][hapmap]
rs3007708	0.80[CHB][hapmap]
rs3007711	0.87[CHB][hapmap]
rs34251437	0.87[ASN][1000 genomes]
rs3791153	0.87[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4845719	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56000812	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56028913	0.82[AMR][1000 genomes]
rs56078223	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56170235	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56313205	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57674198	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57785325	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58087484	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61814883	0.85[ASN][1000 genomes]
rs61817695	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61817697	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61817719	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61817720	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61817722	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817723	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61817724	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817725	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587632	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6587633	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6587634	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6587635	0.82[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6587636	0.82[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6587637	0.80[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6587638	0.85[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6587640	0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6657658	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6659662	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6662602	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662611	0.82[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6662728	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6663064	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672064	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6675930	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678672	0.86[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6682605	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684114	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684312	0.88[AMR][1000 genomes]
rs6686874	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690449	0.88[AMR][1000 genomes]
rs6691212	0.87[ASN][1000 genomes]
rs6693388	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693396	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6693901	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695324	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701374	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6703448	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6703465	0.82[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72694840	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7535002	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538652	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7541099	0.81[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7554832	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7554859	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs902313	0.81[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs971887	0.94[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9943221	0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9943251	S100A10	cis	multi-tissue	Pritchard
rs9943251	THEM4	Cis_1M	lymphoblastoid	RTeQTL
rs9943251	S100A10	Cis_1M	lymphoblastoid	RTeQTL
rs9943251	THEM4	cis	multi-tissue	Pritchard

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151907000-151917400	Weak transcription	Right Atrium	heart
2	chr1:151909600-151917800	Weak transcription	HUVEC	blood vessel
3	chr1:151912200-151917800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:151913000-151917200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:151913000-151919800	Enhancers	Fetal Intestine Large	intestine
6	chr1:151913200-151917800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:151913200-151919000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:151914000-151917400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:151914000-151922000	Weak transcription	Spleen	Spleen
10	chr1:151914200-151917400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:151914200-151917800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:151914400-151917200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:151914400-151917200	Weak transcription	HSMMtube	muscle
14	chr1:151914600-151917400	Weak transcription	Aorta	Aorta
15	chr1:151914600-151918000	Weak transcription	Osteobl	bone
16	chr1:151915200-151917800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:151915200-151919600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:151915600-151918000	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:151915600-151918400	Weak transcription	Ovary	ovary
20	chr1:151915600-151919400	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:151916000-151917800	Enhancers	Left Ventricle	heart
22	chr1:151916200-151919600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:151916400-151917400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:151916400-151918400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:151916400-151919200	Enhancers	K562	blood
26	chr1:151916400-151919400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:151916400-151919600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr1:151916400-151919800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:151916600-151917200	Bivalent Enhancer	Fetal Lung	lung
30	chr1:151916600-151917400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:151916600-151917400	Enhancers	Brain Anterior Caudate	brain
32	chr1:151916600-151918000	Enhancers	Duodenum Mucosa	Duodenum
33	chr1:151916600-151918200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:151916600-151918200	Flanking Active TSS	Hela-S3	cervix
35	chr1:151916600-151918600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:151916600-151919000	Enhancers	Placenta	Placenta
37	chr1:151916600-151919000	Enhancers	Small Intestine	intestine
38	chr1:151916600-151919200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:151916600-151919400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr1:151916600-151919400	Enhancers	Colon Smooth Muscle	Colon
41	chr1:151916600-151919600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr1:151916600-151919600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:151916600-151919600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:151916600-151919600	Enhancers	Fetal Muscle Leg	muscle
45	chr1:151916600-151919600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr1:151916600-151919600	Enhancers	Stomach Mucosa	stomach
47	chr1:151916600-151919800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr1:151916600-151919800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr1:151916600-151919800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:151916600-151919800	Enhancers	Fetal Intestine Small	intestine

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