Variant report

Variant	rs11057320
Chromosome Location	chr12:124141362-124141363
allele	A/G
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	POLR2A	chr12:124141007-124141579	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:124117712..124121219-chr12:124140785..124143591,3	K562	blood:
2	chr12:124137919..124140915-chr12:124140949..124142983,2	MCF-7	breast:
3	chr12:124095180..124096998-chr12:124140972..124143607,2	MCF-7	breast:

Variant related genes	Relation type
GTF2H3	TF binding region
ENSG00000111361	Chromatin interaction
ENSG00000111358	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1051793	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10846535	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10846537	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10846540	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10846546	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11057307	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11610473	0.83[EUR][1000 genomes]
rs12813346	0.91[EUR][1000 genomes]
rs12821219	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1515814	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1969272	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2222061	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2250026	0.88[EUR][1000 genomes]
rs35158437	0.81[AMR][1000 genomes]
rs35649708	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3748269	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4040225	0.82[EUR][1000 genomes]
rs4930708	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6488883	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6551	0.80[EUR][1000 genomes]
rs7134074	0.81[AMR][1000 genomes]
rs7134896	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7135624	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7137946	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7139193	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7301065	0.82[AMR][1000 genomes]
rs7301907	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7302183	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7302449	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7305701	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7313628	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs786422	0.80[EUR][1000 genomes]
rs786423	0.80[EUR][1000 genomes]
rs786425	0.80[EUR][1000 genomes]
rs786443	0.80[EUR][1000 genomes]
rs786444	0.80[EUR][1000 genomes]
rs786447	0.80[EUR][1000 genomes]
rs786448	0.80[EUR][1000 genomes]
rs7966867	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7966882	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7971452	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7972413	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs908373	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv35148	chr12:124119120-124196120	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv2756516	chr12:124119120-124196120	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv1053101	chr12:124119155-124172731	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
14	nsv524660	chr12:124119983-124194438	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv455733	chr12:124119983-124195856	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv560496	chr12:124119983-124195856	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv1040119	chr12:124122376-124152950	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv1036843	chr12:124122376-124169697	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv1052065	chr12:124127003-124157939	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv1051385	chr12:124127003-124160021	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	nsv1053923	chr12:124127003-124162750	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
22	nsv1037556	chr12:124127003-124166978	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	nsv1043738	chr12:124127003-124169697	Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	nsv1046151	chr12:124127003-124172731	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
25	nsv1045476	chr12:124127003-124174020	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
26	nsv1055052	chr12:124127003-124176120	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
27	nsv1044734	chr12:124127003-124179417	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
28	nsv560497	chr12:124129460-124195856	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	nsv560498	chr12:124129924-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11057320	TCTN2	cis	Artery Tibial	GTEx
rs11057320	TCTN2	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124119200-124155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:124119600-124143000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:124119800-124146200	Weak transcription	Psoas Muscle	Psoas
4	chr12:124119800-124155200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:124121400-124144000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:124123200-124142600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:124123800-124142600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:124124000-124145600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:124124000-124146400	Strong transcription	Fetal Thymus	thymus
10	chr12:124124000-124148200	Strong transcription	Primary T cells from cord blood	blood
11	chr12:124125000-124146600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:124125600-124146800	Weak transcription	Small Intestine	intestine
13	chr12:124126200-124142600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:124126200-124148200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:124126400-124142400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:124126800-124142600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:124126800-124145800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:124126800-124148000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:124127000-124145800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:124127400-124142600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:124129200-124147800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:124129600-124142400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:124129600-124142400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:124129600-124142600	Strong transcription	Liver	Liver
25	chr12:124129600-124143000	Strong transcription	Brain Hippocampus Middle	brain
26	chr12:124129600-124145200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:124129600-124146400	Strong transcription	Dnd41	blood
28	chr12:124129800-124141800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:124130000-124141600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:124131000-124155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:124131200-124151600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:124131200-124155200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:124131400-124155200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:124131400-124155200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:124131400-124155600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:124131400-124155600	Weak transcription	Right Ventricle	heart
37	chr12:124132200-124144000	Strong transcription	Osteobl	bone
38	chr12:124132200-124145800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:124133000-124155200	Weak transcription	Stomach Mucosa	stomach
40	chr12:124133600-124145200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:124133800-124142000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:124134800-124142400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:124135000-124144200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:124135600-124143400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:124135600-124144000	Weak transcription	Brain Angular Gyrus	brain
46	chr12:124135600-124144000	Weak transcription	Brain Substantia Nigra	brain
47	chr12:124135800-124147800	Weak transcription	Fetal Lung	lung
48	chr12:124136600-124141400	Enhancers	Fetal Brain Male	brain
49	chr12:124136800-124144000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:124137200-124142000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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