Variant report

Variant	rs4316537
Chromosome Location	chr11:71155129-71155130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71151944-71156747	K562	blood:	n/a	n/a
2	POLR2A	chr11:71154973-71155299	K562	blood:	n/a	n/a
3	POLR2A	chr11:71154830-71155558	K562	blood:	n/a	n/a
4	POLR2A	chr11:71154555-71155619	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:71154751-71155205	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr11:71155069-71155402	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71155081-71155131	A549	lung:	n/a
2	chr11:71155081-71155131	AG04450	lung:	fetal
3	chr11:71155081-71155131	GM19239	blood:	n/a
4	chr11:71155081-71155131	BJ	skin:	n/a
5	chr11:71155081-71155131	GM06990	blood:	n/a
6	chr11:71155081-71155131	Hela-S3	cervix:	n/a
7	chr11:71155081-71155131	PANC-1	pancreas:	n/a
8	chr11:71155081-71155131	CMK	blood:	n/a
9	chr11:71155081-71155131	HCPEpiC	choroid plexus:	n/a
10	chr11:71155081-71155131	RPTEC	kidney:	n/a
11	chr11:71155081-71155131	AG09309	skin:	n/a
12	chr11:71155081-71155131	NHDF-neo	bronchial:	n/a
13	chr11:71155081-71155131	HRE	kidney:	n/a
14	chr11:71155081-71155131	HCT-116	colon:	n/a
15	chr11:71155081-71155131	HepG2	liver:	n/a
16	chr11:71155081-71155131	SK-N-MC	brain:	n/a
17	chr11:71155081-71155131	HEEpiC	esophagus:	n/a
18	chr11:71155081-71155131	AG10803	skin:	n/a
19	chr11:71155081-71155131	HNPCEpiC	eye:	n/a
20	chr11:71155081-71155131	NHBE	bronchial:	n/a
21	chr11:71155081-71155131	NT2-D1	testis:	n/a
22	chr11:71155081-71155131	HCM	heart:	n/a
23	chr11:71155081-71155131	HUVEC	blood vessel:	n/a
24	chr11:71155081-71155131	GM12878	blood:	n/a
25	chr11:71155081-71155131	HCF	heart:	n/a
26	chr11:71155081-71155131	HAEpiC	amniotic membrane:	n/a
27	chr11:71155081-71155131	HRCEpiC	kidney:	n/a
28	chr11:71155081-71155131	ovcar-3	ovarian:	n/a
29	chr11:71155081-71155131	PFSK-1	brain:	n/a
30	chr11:71155081-71155131	GM12891	blood:	n/a
31	chr11:71155081-71155131	SKMC	muscle:	n/a
32	chr11:71155081-71155131	T-47D	breast:	n/a
33	chr11:71155081-71155131	ProgFib	skin:	n/a
34	chr11:71155081-71155131	NH-A	brain:	n/a
35	chr11:71155081-71155131	H1-hESC	embryonic stem cell:	embryo
36	chr11:71155081-71155131	HMEC	breast:	n/a
37	chr11:71155081-71155131	MCF10A-Er-Src	breast:	n/a
38	chr11:71155081-71155131	MCF-7	breast:	n/a
39	chr11:71155081-71155131	LNCaP	prostate:	n/a
40	chr11:71155081-71155131	U87	brain:	n/a
41	chr11:71155081-71155131	GM12892	blood:	n/a
42	chr11:71155081-71155131	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:71155081-71155131	NB4	blood:	n/a
44	chr11:71155081-71155131	ECC-1	luminal epithelium:	n/a
45	chr11:71155081-71155131	BE2_C	brain:	n/a
46	chr11:71155081-71155131	AG09319	gingival:	n/a
47	chr11:71155081-71155131	HEK293	kidney:	embryo
48	chr11:71155081-71155131	AoSMC	blood vessel:	n/a
49	chr11:71155081-71155131	PrEC	prostate:	n/a
50	chr11:71155081-71155131	SAEC	small airway:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71138911..71140880-chr11:71154532..71157322,2	K562	blood:
2	chr11:71146059..71148297-chr11:71153188..71155860,2	K562	blood:
3	chr11:71154436..71156970-chr11:71198755..71201662,2	MCF-7	breast:

No data

Variant related genes	Relation type
DHCR7	TF binding region
ENSG00000254682	TF binding region
ENSG00000254682	CpG island
DHCR7	CpG island

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1002171	1.00[CEU][hapmap];0.96[GIH][hapmap];0.85[MEX][hapmap]
rs11233868	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11501814	0.83[ASN][1000 genomes]
rs12273154	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12275635	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12275636	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12277408	1.00[CEU][hapmap]
rs12286569	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12286616	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12288906	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12289036	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12289074	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12289358	0.85[ASN][1000 genomes]
rs12573951	0.92[EUR][1000 genomes]
rs12574206	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12574554	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12575605	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs12575622	0.83[ASN][1000 genomes]
rs12576621	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.80[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12577807	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17161576	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1893058	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2298776	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs28823295	0.83[ASN][1000 genomes]
rs28898287	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3794062	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3794064	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3814733	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs57197278	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs57500217	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs57557229	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs57718633	0.83[ASN][1000 genomes]
rs58615796	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs59379414	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs59422671	0.83[ASN][1000 genomes]
rs59487812	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7114525	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7120978	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7121106	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7122671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7129044	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs753352	0.83[ASN][1000 genomes]
rs7929042	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7940351	0.83[ASN][1000 genomes]
rs7943296	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7952035	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv518163	chr11:71142350-71155153	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv933654	chr11:71153638-71156067	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv933565	chr11:71154799-71156067	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv933064	chr11:71155081-71155351	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv933771	chr11:71155081-71155613	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4316537	NADSYN1	cis	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71140600-71158200	Weak transcription	Fetal Brain Male	brain
2	chr11:71144000-71156200	Strong transcription	Fetal Brain Female	brain
3	chr11:71144200-71158200	Weak transcription	Small Intestine	intestine
4	chr11:71144400-71156200	Strong transcription	Primary T cells from cord blood	blood
5	chr11:71144600-71157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:71144800-71156600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:71144800-71156800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:71144800-71156800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:71144800-71157800	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr11:71145000-71155400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:71145000-71156400	Strong transcription	Brain Germinal Matrix	brain
12	chr11:71145000-71156600	Strong transcription	Fetal Stomach	stomach
13	chr11:71145000-71157000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:71145000-71157000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:71145000-71157400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:71145000-71157800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:71145000-71158600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:71145200-71156200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:71145200-71157000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:71145200-71157000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:71145200-71157200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:71145200-71157400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:71145200-71157400	Strong transcription	HMEC	breast
24	chr11:71145200-71157800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr11:71145400-71157800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:71145400-71158000	Weak transcription	Stomach Mucosa	stomach
27	chr11:71145600-71157000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:71145600-71157000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:71145600-71158000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:71145800-71155400	Strong transcription	Left Ventricle	heart
31	chr11:71145800-71156200	Strong transcription	Lung	lung
32	chr11:71145800-71156400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:71145800-71156600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:71145800-71156600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:71145800-71156800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:71145800-71156800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:71145800-71157000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:71145800-71157200	Strong transcription	HSMMtube	muscle
39	chr11:71145800-71157400	Strong transcription	Fetal Intestine Large	intestine
40	chr11:71145800-71157800	Strong transcription	Fetal Intestine Small	intestine
41	chr11:71146000-71155800	Strong transcription	HepG2	liver
42	chr11:71146000-71156200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:71146000-71156800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:71146000-71156800	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:71146000-71157000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:71146000-71157000	Strong transcription	Dnd41	blood
47	chr11:71146000-71158000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:71146200-71156200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:71146200-71156200	Strong transcription	Right Ventricle	heart
50	chr11:71146200-71156600	Strong transcription	Colonic Mucosa	Colon

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