Variant report

Variant	rs7120978
Chromosome Location	chr11:71191734-71191735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr11:71191670-71193302	MCF-7	breast:	n/a	n/a
2	EP300	chr11:71191555-71193213	MCF-7	breast:	n/a	chr11:71192532-71192546 chr11:71192530-71192544 chr11:71192531-71192545
3	CTCF	chr11:71191700-71191850	Caco-2	colon:	n/a	n/a
4	GATA3	chr11:71191549-71193119	MCF-7	breast:	n/a	n/a
5	GATA3	chr11:71191730-71193007	MCF-7	breast:	n/a	n/a
6	NR2F2	chr11:71191582-71193199	MCF-7	breast:	n/a	n/a
7	GATA3	chr11:71191547-71193275	MCF-7	breast:	n/a	n/a
8	MAX	chr11:71191698-71193467	MCF-7	breast:	n/a	chr11:71192856-71192863 chr11:71192812-71192819 chr11:71192811-71192820 chr11:71192811-71192820 chr11:71192854-71192864
9	HMGN3	chr11:71191680-71191908	K562	blood:	n/a	n/a
10	HDAC2	chr11:71191721-71193154	MCF-7	breast:	n/a	chr11:71192815-71192834 chr11:71192530-71192544 chr11:71192531-71192545 chr11:71192777-71192791 chr11:71192533-71192547 chr11:71192534-71192548 chr11:71192529-71192543 chr11:71192532-71192546
11	MAX	chr11:71191484-71193588	MCF-7	breast:	n/a	chr11:71192856-71192863 chr11:71192812-71192819 chr11:71192811-71192820 chr11:71192811-71192820 chr11:71192854-71192864
12	EP300	chr11:71191687-71193066	MCF-7	breast:	n/a	chr11:71192532-71192546 chr11:71192530-71192544 chr11:71192531-71192545
13	NR2F2	chr11:71191502-71193145	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:70651550..70653868-chr11:71190955..71193136,3	MCF-7	breast:
2	chr11:71156994..71165841-chr11:71185066..71202614,31	MCF-7	breast:
3	chr11:71186512..71188685-chr11:71191239..71193061,2	K562	blood:

Variant related genes	Relation type
NADSYN1	TF binding region
ENSG00000172890	Chromatin interaction
ENSG00000172893	Chromatin interaction
ENSG00000254682	Chromatin interaction
ENSG00000162105	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1002171	0.84[EUR][1000 genomes]
rs11233868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11233947	0.90[EUR][1000 genomes]
rs11501814	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12273154	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12275635	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275636	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277408	0.90[EUR][1000 genomes]
rs12283114	0.86[EUR][1000 genomes]
rs12283177	0.86[EUR][1000 genomes]
rs12283185	0.86[EUR][1000 genomes]
rs12286569	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12286616	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12288906	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12289036	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12289074	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12289358	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12574206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574554	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12575605	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12575622	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12576621	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12577807	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17161576	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17161578	0.90[EUR][1000 genomes]
rs1893058	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2298776	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28722015	0.98[EUR][1000 genomes]
rs28823295	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28898287	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3794062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4316537	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs57017893	0.90[EUR][1000 genomes]
rs57197278	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57500217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57557229	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57718633	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58615796	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59379414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59422671	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59487812	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59511885	0.84[EUR][1000 genomes]
rs59972361	0.90[EUR][1000 genomes]
rs7114525	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122671	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7129044	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7130479	0.94[EUR][1000 genomes]
rs7483469	0.83[ASN][1000 genomes]
rs753352	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7929042	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7940351	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7943296	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7952035	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1052432	chr11:71167449-71213007	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7120978	NADSYN1	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165000-71210000	Weak transcription	Psoas Muscle	Psoas
2	chr11:71165200-71199200	Weak transcription	Right Atrium	heart
3	chr11:71165400-71194200	Weak transcription	Fetal Heart	heart
4	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:71166000-71194200	Weak transcription	Fetal Brain Male	brain
6	chr11:71167400-71194000	Weak transcription	Fetal Kidney	kidney
7	chr11:71171600-71194000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:71172200-71195000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:71178400-71192600	Weak transcription	K562	blood
10	chr11:71180600-71199000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:71180800-71197600	Strong transcription	Fetal Intestine Small	intestine
12	chr11:71180800-71198400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:71180800-71199400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr11:71181400-71217800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:71181800-71218000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:71182000-71197600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:71182000-71197800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:71182000-71198400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:71182000-71198800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:71182000-71217600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:71182200-71195800	Strong transcription	Lung	lung
22	chr11:71182200-71197800	Strong transcription	Brain Cingulate Gyrus	brain
23	chr11:71182200-71197800	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr11:71182200-71198000	Strong transcription	Brain Hippocampus Middle	brain
25	chr11:71182200-71198400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:71182200-71198400	Strong transcription	Brain Anterior Caudate	brain
27	chr11:71182200-71198600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:71182200-71198600	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:71182200-71198600	Strong transcription	Fetal Stomach	stomach
30	chr11:71182200-71211000	Strong transcription	Liver	Liver
31	chr11:71182200-71216000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:71182200-71216200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:71182200-71216200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:71182200-71217800	Strong transcription	Primary T cells from cord blood	blood
35	chr11:71182400-71197000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr11:71182400-71197600	Strong transcription	Colonic Mucosa	Colon
37	chr11:71182400-71197800	Strong transcription	Primary B cells from cord blood	blood
38	chr11:71182400-71197800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:71182400-71197800	Strong transcription	Aorta	Aorta
40	chr11:71182400-71197800	Strong transcription	Brain Angular Gyrus	brain
41	chr11:71182400-71197800	Strong transcription	Fetal Brain Female	brain
42	chr11:71182400-71197800	Strong transcription	Fetal Intestine Large	intestine
43	chr11:71182400-71197800	Strong transcription	Rectal Smooth Muscle	rectum
44	chr11:71182400-71198200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:71182400-71198200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:71182400-71198400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:71182400-71198400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr11:71182400-71198400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:71182400-71198800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:71182400-71198800	Strong transcription	GM12878-XiMat	blood

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