Variant report

Variant	rs6695344
Chromosome Location	chr1:151178491-151178492
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151174124..151175878-chr1:151177531..151179640,2	K562	blood:
2	1:151171193-151178589..1:151411623-151426875	GM12878	blood:
3	1:151171193-151178589..1:151246650-151254384	GM12878	blood:
4	chr1:151169256..151171583-chr1:151175324..151178873,4	MCF-7	breast:
5	1:151171193-151178589..1:151333184-151350267	GM12878	blood:
6	1:151171193-151178589..1:151219411-151234038	GM12878	blood:
7	1:151171193-151178589..1:151254384-151268403	Hela-S3	cervix:
8	chr1:151171256..151175527-chr1:151178181..151182275,7	MCF-7	breast:
9	1:151171193-151178589..1:151516085-151535167	GM12878	blood:
10	1:151171193-151178589..1:151203965-151215310	GM12878	blood:
11	1:151171193-151178589..1:151368336-151375897	Hela-S3	cervix:
12	chr1:151175695..151178568-chr1:151178857..151183674,4	MCF-7	breast:
13	chr1:151177346..151179948-chr1:151225610..151227911,2	K562	blood:
14	chr1:151177242..151178912-chr1:151193662..151196326,2	MCF-7	breast:
15	1:151171193-151178589..1:151496437-151509688	Hela-S3	cervix:
16	chr1:151172835..151174401-chr1:151177247..151179111,2	K562	blood:
17	1:151171193-151178589..1:151270864-151283078	K562	blood:
18	1:151171193-151178589..1:151618750-151636526	Hela-S3	cervix:
19	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000143375	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000265753	Chromatin interaction
ENSG00000224645	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000159377	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1056847	0.86[GIH][hapmap];0.90[JPT][hapmap]
rs10749660	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10788801	0.85[JPT][hapmap]
rs10788803	0.85[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap]
rs10888406	0.87[ASN][1000 genomes]
rs10888408	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.85[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10888409	0.85[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap]
rs10888410	0.90[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap]
rs11204785	0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.86[ASN][1000 genomes]
rs11204791	0.88[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.88[ASN][1000 genomes]
rs11204795	0.82[ASN][1000 genomes]
rs11807075	0.86[ASN][1000 genomes]
rs12022732	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12040384	0.88[ASN][1000 genomes]
rs12048670	0.88[ASN][1000 genomes]
rs12062719	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12080778	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12407426	0.96[ASN][1000 genomes]
rs1536617	0.80[JPT][hapmap]
rs16827941	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs16833079	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1892196	0.94[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2025900	0.81[JPT][hapmap]
rs2031797	0.80[JPT][hapmap]
rs2275900	0.88[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.88[ASN][1000 genomes]
rs2769267	0.81[JPT][hapmap]
rs2769268	0.81[JPT][hapmap]
rs2769273	0.81[JPT][hapmap]
rs2800946	0.81[JPT][hapmap]
rs3811405	0.84[GIH][hapmap];0.85[JPT][hapmap]
rs3811406	0.80[JPT][hapmap]
rs41302131	0.88[ASN][1000 genomes]
rs4246525	0.90[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap]
rs4291501	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4520422	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4636463	0.88[GIH][hapmap]
rs4970944	0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.87[ASN][1000 genomes]
rs4970948	0.90[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap]
rs4971013	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4971015	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4971016	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4971018	0.85[JPT][hapmap]
rs4971021	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4971023	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4971025	0.88[ASN][1000 genomes]
rs4971026	0.88[ASN][1000 genomes]
rs4971027	0.90[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4971029	0.80[JPT][hapmap]
rs4971030	0.90[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap]
rs5022636	0.83[GIH][hapmap];0.81[JPT][hapmap]
rs58323986	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61817972	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6587559	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.96[ASN][1000 genomes]
rs6587562	0.90[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs6678528	0.85[JPT][hapmap]
rs6681071	0.90[ASN][1000 genomes]
rs6681163	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6683396	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6686402	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6701325	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7521064	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7527032	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7532935	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7539584	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.99[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7544947	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.96[ASN][1000 genomes]
rs7545392	0.86[JPT][hapmap]
rs7552906	0.82[JPT][hapmap]
rs943637	0.90[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6695344	SELENBP1	cis	cerebellum	SCAN
rs6695344	ANKRD34A	cis	cerebellum	SCAN
rs6695344	PSMD4	cis	cerebellum	SCAN
rs6695344	PGLYRP3	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151172800-151179000	Weak transcription	Gastric	stomach
2	chr1:151172800-151197200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:151172800-151204400	Weak transcription	Stomach Mucosa	stomach
4	chr1:151173200-151179200	Weak transcription	Right Atrium	heart
5	chr1:151173200-151179400	Weak transcription	Fetal Brain Female	brain
6	chr1:151173200-151182200	Weak transcription	Brain Angular Gyrus	brain
7	chr1:151173200-151191600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:151173200-151196600	Weak transcription	K562	blood
9	chr1:151173200-151197000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:151173200-151199600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:151173200-151200000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:151173200-151212000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:151173200-151227200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:151173600-151210600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:151173800-151185200	Strong transcription	Fetal Intestine Small	intestine
16	chr1:151174000-151194600	Weak transcription	Brain Substantia Nigra	brain
17	chr1:151174000-151199400	Weak transcription	Small Intestine	intestine
18	chr1:151174200-151179200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:151174200-151179200	Weak transcription	Right Ventricle	heart
20	chr1:151174200-151179400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:151174200-151200600	Weak transcription	Pancreas	Pancrea
22	chr1:151174400-151179000	Weak transcription	Left Ventricle	heart
23	chr1:151174400-151180800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:151174400-151183600	Strong transcription	Fetal Thymus	thymus
25	chr1:151174400-151183800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:151174400-151187000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:151174400-151189200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:151174400-151203800	Weak transcription	Fetal Brain Male	brain
29	chr1:151174600-151179600	Weak transcription	Fetal Heart	heart
30	chr1:151174600-151184400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:151174600-151185000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:151174600-151185200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr1:151174800-151179400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:151174800-151179400	Weak transcription	Colonic Mucosa	Colon
35	chr1:151174800-151180400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:151174800-151181800	Strong transcription	A549	lung
37	chr1:151174800-151183600	Strong transcription	Primary T cells from cord blood	blood
38	chr1:151175000-151178600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:151175000-151178800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:151175000-151179200	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:151175000-151179400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:151175000-151180800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr1:151175000-151182800	Strong transcription	NHEK	skin
44	chr1:151175000-151185400	Strong transcription	Fetal Stomach	stomach
45	chr1:151175000-151189000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr1:151175200-151179000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:151175200-151179400	Weak transcription	HSMMtube	muscle
48	chr1:151175200-151179400	Weak transcription	NHLF	lung
49	chr1:151175200-151184000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:151175200-151185200	Weak transcription	Psoas Muscle	Psoas

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