Variant report

Variant	rs1107755
Chromosome Location	chr12:105629354-105629355
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	ZBTB7A	chr12:105629318-105629852	K562	blood:	n/a	n/a
2	CTCF	chr12:105629280-105629430	AoAF	blood vessel:	n/a	n/a
3	STAT3	chr12:105629086-105629444	MCF10A-Er-Src	breast:	n/a	n/a
4	MXI1	chr12:105629219-105630324	GM12878	blood:	n/a	chr12:105630122-105630137
5	SMARCB1	chr12:105629049-105630289	Hela-S3	cervix:	n/a	n/a
6	ZNF384	chr12:105629348-105629505	GM12878	blood:	n/a	n/a
7	RAD21	chr12:105629016-105630689	IMR90	lung:	n/a	chr12:105629805-105629818
8	RCOR1	chr12:105629161-105630515	K562	blood:	n/a	n/a
9	POLR2A	chr12:105628893-105630852	SK-N-SH	brain:	n/a	n/a
10	MAZ	chr12:105629344-105630237	HepG2	liver:	n/a	chr12:105629576-105629586 chr12:105629573-105629583
11	GABPA	chr12:105629351-105630429	K562	blood:	n/a	chr12:105629568-105629577
12	MXI1	chr12:105629126-105630304	HepG2	liver:	n/a	chr12:105630122-105630137
13	FOS	chr12:105629131-105629375	MCF10A-Er-Src	breast:	n/a	chr12:105629274-105629284 chr12:105629274-105629284 chr12:105629275-105629283
14	SIN3AK20	chr12:105629305-105629982	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr12:105629280-105629430	AG09319	gingival:	n/a	n/a
16	FOS	chr12:105629151-105629365	MCF10A-Er-Src	breast:	n/a	chr12:105629274-105629284 chr12:105629274-105629284 chr12:105629275-105629283
17	HDAC2	chr12:105629301-105630405	MCF-7	breast:	n/a	chr12:105630277-105630291
18	POLR2A	chr12:105629035-105630737	IMR90	lung:	n/a	n/a
19	POLR2A	chr12:105628951-105630743	HUVEC	blood vessel:	n/a	n/a
20	ZNF143	chr12:105629246-105629547	K562	blood:	n/a	n/a
21	STAT3	chr12:105629098-105629499	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr12:105628276-105630777	MCF10A-Er-Src	breast:	n/a	n/a
23	JUND	chr12:105629215-105630338	K562	blood:	n/a	chr12:105629274-105629284 chr12:105629274-105629284 chr12:105630092-105630101 chr12:105629275-105629283
24	RAD21	chr12:105629173-105630531	Hela-S3	cervix:	n/a	chr12:105629805-105629818
25	KAP1	chr12:105629141-105629484	U2OS	brain:	n/a	chr12:105629276-105629285
26	MAZ	chr12:105629085-105630473	K562	blood:	n/a	chr12:105629576-105629586 chr12:105629573-105629583 chr12:105629275-105629284
27	MXI1	chr12:105629047-105630298	Hela-S3	cervix:	n/a	chr12:105630122-105630137
28	MAFK	chr12:105629353-105629372	K562	blood:	n/a	n/a
29	CTCF	chr12:105629300-105629450	HVMF	connective:	n/a	n/a
30	ZNF143	chr12:105629273-105630176	Hela-S3	cervix:	n/a	chr12:105630086-105630104
31	GATA1	chr12:105629120-105630401	PBDE	blood:	n/a	chr12:105630209-105630230 chr12:105630224-105630233 chr12:105630211-105630227 chr12:105630216-105630223 chr12:105630214-105630223 chr12:105629273-105629282
32	FOS	chr12:105629088-105629469	MCF10A-Er-Src	breast:	n/a	chr12:105629274-105629284 chr12:105629274-105629284 chr12:105629275-105629283
33	FOS	chr12:105629115-105629455	MCF10A-Er-Src	breast:	n/a	chr12:105629274-105629284 chr12:105629274-105629284 chr12:105629275-105629283
34	POLR2A	chr12:105629278-105630507	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:105629329-105630381	H1-neurons	neurons:	n/a	n/a
36	CTCF	chr12:105629242-105630412	K562	blood:	n/a	n/a
37	SIN3A	chr12:105629270-105630264	H1-hESC	embryonic stem cell:	n/a	chr12:105630148-105630162
38	ZKSCAN1	chr12:105629288-105630267	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr12:105628888-105630747	MCF10A-Er-Src	breast:	n/a	n/a
40	RCOR1	chr12:105629150-105629495	K562	blood:	n/a	n/a
41	HCFC1	chr12:105628448-105630871	Hela-S3	cervix:	n/a	n/a
42	GABPA	chr12:105629214-105630781	A549	lung:	n/a	chr12:105629568-105629577
43	POLR2A	chr12:105629071-105630765	Hela-S3	cervix:	n/a	n/a
44	MAX	chr12:105629331-105630339	NB4	blood:	n/a	chr12:105629576-105629586 chr12:105629573-105629583
45	MYC	chr12:105629256-105630501	K562	blood:	n/a	chr12:105629576-105629586 chr12:105629573-105629583 chr12:105629275-105629284
46	RCOR1	chr12:105629283-105630214	HepG2	liver:	n/a	n/a
47	ZBTB7A	chr12:105629339-105630360	ECC-1	luminal epithelium:	n/a	n/a
48	MAX	chr12:105629143-105630671	A549	lung:	n/a	chr12:105629576-105629586 chr12:105629573-105629583 chr12:105629275-105629284
49	MYC	chr12:105628673-105629399	MCF10A-Er-Src	breast:	n/a	chr12:105629275-105629284
50	POLR2A	chr12:105629105-105630384	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104682529..104684202-chr12:105629338..105630884,2	MCF-7	breast:
2	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:
3	chr12:105628750..105631438-chr12:105722608..105725285,3	MCF-7	breast:
4	chr12:105620755..105625323-chr12:105625745..105629848,5	K562	blood:
5	chr12:105499144..105502991-chr12:105627617..105631044,5	MCF-7	breast:
6	chr12:105628899..105630525-chr15:65596241..65598833,2	MCF-7	breast:
7	chr12:105610784..105617210-chr12:105628529..105631630,8	MCF-7	breast:
8	chr12:105501540..105503183-chr12:105627693..105630661,2	MCF-7	breast:
9	chr12:105500023..105502355-chr12:105628064..105629909,2	K562	blood:
10	chr12:105500023..105504653-chr12:105628064..105630551,4	K562	blood:
11	chr12:105542946..105545712-chr12:105628511..105631314,2	MCF-7	breast:

Variant related genes	Relation type
APPL2	TF binding region
ENSG00000136044	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000235162	Chromatin interaction
ENSG00000257999	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1107757	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112424	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112428	0.93[EUR][1000 genomes]
rs11112434	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196742	0.84[EUR][1000 genomes]
rs1196745	0.84[EUR][1000 genomes]
rs1196748	0.84[EUR][1000 genomes]
rs1196749	0.84[EUR][1000 genomes]
rs1196753	0.89[EUR][1000 genomes]
rs1196754	0.89[EUR][1000 genomes]
rs1196756	0.84[EUR][1000 genomes]
rs1196764	0.84[EUR][1000 genomes]
rs1196765	0.85[EUR][1000 genomes]
rs1196770	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196772	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196777	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196780	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1196782	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196786	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1196787	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1196789	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1196790	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1196791	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196793	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196795	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1196797	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1196798	0.83[EUR][1000 genomes]
rs1196800	0.83[EUR][1000 genomes]
rs1196801	0.83[EUR][1000 genomes]
rs1196805	0.83[EUR][1000 genomes]
rs1196806	0.83[EUR][1000 genomes]
rs1196807	0.83[EUR][1000 genomes]
rs1196808	0.83[EUR][1000 genomes]
rs1196811	0.83[EUR][1000 genomes]
rs1196813	0.83[EUR][1000 genomes]
rs1196817	0.83[EUR][1000 genomes]
rs1196819	0.83[EUR][1000 genomes]
rs1196820	0.83[EUR][1000 genomes]
rs1196823	0.82[EUR][1000 genomes]
rs1196825	0.83[EUR][1000 genomes]
rs1196831	0.83[EUR][1000 genomes]
rs1196833	0.83[EUR][1000 genomes]
rs1196839	0.83[EUR][1000 genomes]
rs1196841	0.83[EUR][1000 genomes]
rs1196842	0.83[EUR][1000 genomes]
rs1196844	0.83[EUR][1000 genomes]
rs1196848	0.83[EUR][1000 genomes]
rs1196851	0.84[EUR][1000 genomes]
rs1196853	0.84[EUR][1000 genomes]
rs1196859	0.82[EUR][1000 genomes]
rs1196861	0.84[EUR][1000 genomes]
rs1196862	0.83[EUR][1000 genomes]
rs1196864	0.84[EUR][1000 genomes]
rs1196869	0.83[EUR][1000 genomes]
rs1196871	0.81[EUR][1000 genomes]
rs1196872	0.82[EUR][1000 genomes]
rs1196873	0.83[EUR][1000 genomes]
rs1196874	0.83[EUR][1000 genomes]
rs1206559	0.83[EUR][1000 genomes]
rs1209637	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1211276	0.83[EUR][1000 genomes]
rs1211277	0.83[EUR][1000 genomes]
rs1211626	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12369709	0.98[EUR][1000 genomes]
rs12814458	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816560	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444610	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1663565	0.82[EUR][1000 genomes]
rs1732370	0.83[EUR][1000 genomes]
rs2257156	0.84[EUR][1000 genomes]
rs2440718	0.83[EUR][1000 genomes]
rs2464173	0.83[EUR][1000 genomes]
rs2464175	0.83[EUR][1000 genomes]
rs2464181	0.83[EUR][1000 genomes]
rs2464182	0.83[EUR][1000 genomes]
rs35679386	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67604711	0.88[EUR][1000 genomes]
rs71441895	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181823	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873119	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs935240	0.83[EUR][1000 genomes]
rs935241	0.83[EUR][1000 genomes]
rs935242	0.83[EUR][1000 genomes]
rs935244	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935248	0.84[EUR][1000 genomes]
rs935249	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1107755	ALDH1L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105626400-105629400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:105627000-105629400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr12:105627600-105629400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr12:105627600-105630600	Active TSS	Aorta	Aorta
5	chr12:105627800-105629400	Flanking Active TSS	HUVEC	blood vessel
6	chr12:105627800-105629600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr12:105628000-105629400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr12:105628000-105629400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr12:105628000-105629400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr12:105628000-105629400	Flanking Active TSS	Fetal Kidney	kidney
11	chr12:105628000-105629400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr12:105628000-105629400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr12:105628000-105629400	Flanking Active TSS	Dnd41	blood
14	chr12:105628000-105630400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr12:105628000-105630600	Active TSS	Colonic Mucosa	Colon
16	chr12:105628200-105629400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:105628200-105629400	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr12:105628200-105629600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:105628200-105629600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:105628200-105629600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:105628200-105629600	Flanking Active TSS	Liver	Liver
22	chr12:105628200-105630400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:105628200-105630600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:105628200-105630800	Active TSS	GM12878-XiMat	blood
25	chr12:105628400-105629400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr12:105628400-105629400	Flanking Active TSS	Hela-S3	cervix
27	chr12:105628400-105629400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr12:105628400-105630200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:105628400-105630200	Active TSS	NHLF	lung
30	chr12:105628400-105630400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr12:105628400-105630400	Active TSS	Brain Cingulate Gyrus	brain
32	chr12:105628400-105630400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:105628400-105630400	Active TSS	Fetal Intestine Large	intestine
34	chr12:105628400-105630400	Active TSS	Left Ventricle	heart
35	chr12:105628400-105630400	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr12:105628400-105630400	Active TSS	NHDF-Ad	bronchial
37	chr12:105628400-105630600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:105628400-105630600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:105628400-105630600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:105628400-105630600	Active TSS	Fetal Intestine Small	intestine
41	chr12:105628400-105630600	Active TSS	Psoas Muscle	Psoas
42	chr12:105628400-105630600	Active TSS	Right Atrium	heart
43	chr12:105628400-105630600	Active TSS	HSMMtube	muscle
44	chr12:105628600-105629400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr12:105628600-105629400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr12:105628600-105629600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr12:105628600-105629600	Flanking Active TSS	NHEK	skin
48	chr12:105628600-105630200	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr12:105628600-105630200	Active TSS	Brain Angular Gyrus	brain
50	chr12:105628600-105630200	Active TSS	Brain Inferior Temporal Lobe	brain

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