Variant report

Variant	rs1182176
Chromosome Location	chr7:2874601-2874602
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	FOS	chr7:2874398-2874790	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr7:2874426-2874780	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr7:2874530-2875202	MCF-7	breast:	n/a	chr7:2874952-2874962
4	POLR2A	chr7:2874563-2874936	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr7:2874396-2874920	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr7:2874491-2875044	H1-hESC	embryonic stem cell:	n/a	chr7:2874902-2874913 chr7:2874900-2874911
7	ZNF217	chr7:2874521-2874991	MCF-7	breast:	n/a	n/a
8	STAT3	chr7:2874380-2874936	MCF10A-Er-Src	breast:	n/a	chr7:2874902-2874910
9	STAT3	chr7:2874387-2874756	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr7:2874371-2875043	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr7:2874421-2875067	HepG2	liver:	n/a	chr7:2874902-2874913 chr7:2874900-2874911
12	MYC	chr7:2874313-2875032	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr7:2874403-2875054	IMR90	lung:	n/a	chr7:2874902-2874913 chr7:2874900-2874911
14	CEBPB	chr7:2874505-2875046	A549	lung:	n/a	chr7:2874902-2874913 chr7:2874900-2874911
15	SIN3AK20	chr7:2874224-2875358	MCF-7	breast:	n/a	n/a
16	STAT3	chr7:2874378-2874685	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr7:2874432-2875005	K562	blood:	n/a	chr7:2874902-2874913 chr7:2874900-2874911
18	CEBPB	chr7:2874492-2875053	Hela-S3	cervix:	n/a	chr7:2874902-2874913 chr7:2874900-2874911
19	CEBPB	chr7:2874310-2875160	MCF-7	breast:	n/a	chr7:2874902-2874913 chr7:2874900-2874911
20	GATA3	chr7:2874559-2875213	MCF-7	breast:	n/a	chr7:2874952-2874962
21	STAT3	chr7:2874382-2875011	MCF10A-Er-Src	breast:	n/a	chr7:2874902-2874910
22	CEBPB	chr7:2874463-2875084	MCF-7	breast:	n/a	chr7:2874902-2874913 chr7:2874900-2874911
23	FOS	chr7:2874386-2875032	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:2874568-2874618	IMR90	lung:	fetal
2	chr7:2874568-2874618	SK-N-SH_RA	brain:	n/a
3	chr7:2874595-2874645	MCF-7	breast:	n/a
4	chr7:2874568-2874618	AG10803	skin:	n/a
5	chr7:2874568-2874618	RPTEC	kidney:	n/a
6	chr7:2874568-2874618	HCF	heart:	n/a
7	chr7:2874568-2874618	NHBE	bronchial:	n/a
8	chr7:2874595-2874645	PFSK-1	brain:	n/a
9	chr7:2874595-2874645	GM12892	blood:	n/a
10	chr7:2874595-2874645	GM06990	blood:	n/a
11	chr7:2874595-2874645	SAEC	small airway:	n/a
12	chr7:2874568-2874618	GM12878	blood:	n/a
13	chr7:2874568-2874618	HepG2	liver:	n/a
14	chr7:2874595-2874645	GM19239	blood:	n/a
15	chr7:2874568-2874618	ProgFib	skin:	n/a
16	chr7:2874568-2874618	AG04449	skin:	fetal
17	chr7:2874595-2874645	BE2_C	brain:	n/a
18	chr7:2874568-2874618	PANC-1	pancreas:	n/a
19	chr7:2874595-2874645	ECC-1	luminal epithelium:	n/a
20	chr7:2874595-2874645	HUVEC	blood vessel:	n/a
21	chr7:2874568-2874618	NT2-D1	testis:	n/a
22	chr7:2874595-2874645	U87	brain:	n/a
23	chr7:2874568-2874618	PrEC	prostate:	n/a
24	chr7:2874568-2874618	SAEC	small airway:	n/a
25	chr7:2874595-2874645	K562	blood:	n/a
26	chr7:2874568-2874618	BJ	skin:	n/a
27	chr7:2874595-2874645	PANC-1	pancreas:	n/a
28	chr7:2874568-2874618	K562	blood:	n/a
29	chr7:2874568-2874618	HRE	kidney:	n/a
30	chr7:2874568-2874618	HEK293	kidney:	embryo
31	chr7:2874595-2874645	HPAEpiC	pulmonary alveolar:	n/a
32	chr7:2874568-2874618	GM12892	blood:	n/a
33	chr7:2874595-2874645	LNCaP	prostate:	n/a
34	chr7:2874595-2874645	AG04449	skin:	fetal
35	chr7:2874568-2874618	SK-N-SH	brain:	n/a
36	chr7:2874568-2874618	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:2874568-2874618	AG04450	lung:	fetal
38	chr7:2874595-2874645	HIPEpiC	eye:	n/a
39	chr7:2874595-2874645	ovcar-3	ovarian:	n/a
40	chr7:2874568-2874618	GM06990	blood:	n/a
41	chr7:2874568-2874618	T-47D	breast:	n/a
42	chr7:2874568-2874618	AG09309	skin:	n/a
43	chr7:2874595-2874645	HEEpiC	esophagus:	n/a
44	chr7:2874568-2874618	Hela-S3	cervix:	n/a
45	chr7:2874595-2874645	Hepatocyte	liver:	n/a
46	chr7:2874595-2874645	H1-hESC	embryonic stem cell:	embryo
47	chr7:2874568-2874618	AoSMC	blood vessel:	n/a
48	chr7:2874595-2874645	PrEC	prostate:	n/a
49	chr7:2874568-2874618	HNPCEpiC	eye:	n/a
50	chr7:2874595-2874645	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:2873423..2874992-chr7:2887430..2888992,2	MCF-7	breast:
2	chr7:2811026..2812536-chr7:2872365..2874848,2	MCF-7	breast:
3	chr7:2872743..2875246-chr7:2912589..2914983,2	MCF-7	breast:
4	chr7:2869377..2877481-chr7:2880306..2885399,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231357	TF binding region
ENSG00000231357	CpG island
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1182172	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1182173	0.96[ASN][1000 genomes]
rs1182174	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1182175	1.00[ASN][1000 genomes]
rs1182177	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1182178	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1182179	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1182180	0.99[ASN][1000 genomes]
rs1182181	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1182182	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1182183	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1182184	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1182185	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1182186	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1182187	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1182188	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1182189	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1182190	0.97[ASN][1000 genomes]
rs1182191	0.92[ASN][1000 genomes]
rs1182192	0.92[ASN][1000 genomes]
rs1182193	0.92[ASN][1000 genomes]
rs1182194	0.97[ASN][1000 genomes]
rs1182195	0.92[ASN][1000 genomes]
rs1182198	0.92[EUR][1000 genomes]
rs1182199	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1182207	0.85[EUR][1000 genomes]
rs1182208	0.83[EUR][1000 genomes]
rs1183085	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13243214	0.86[EUR][1000 genomes]
rs1636247	0.89[EUR][1000 genomes]
rs1636255	0.82[EUR][1000 genomes]
rs1636264	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1713919	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1713920	0.92[ASN][1000 genomes]
rs2107964	0.92[EUR][1000 genomes]
rs2158694	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2260230	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2527680	0.82[EUR][1000 genomes]
rs2533878	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2533879	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2533882	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2533884	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2644294	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2644304	0.96[ASN][1000 genomes]
rs2644309	0.86[EUR][1000 genomes]
rs2644312	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35957220	0.85[EUR][1000 genomes]
rs757791	0.81[ASN][1000 genomes]
rs798485	0.85[EUR][1000 genomes]
rs798486	0.85[EUR][1000 genomes]
rs798487	0.85[EUR][1000 genomes]
rs798488	0.85[EUR][1000 genomes]
rs798490	0.86[EUR][1000 genomes]
rs798491	0.85[EUR][1000 genomes]
rs798493	0.85[EUR][1000 genomes]
rs798494	0.85[EUR][1000 genomes]
rs798495	0.84[EUR][1000 genomes]
rs798497	0.85[EUR][1000 genomes]
rs798500	0.84[EUR][1000 genomes]
rs798502	0.81[EUR][1000 genomes]
rs960273	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1018162	chr7:2817460-2891181	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv538655	chr7:2817460-2891181	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv1019463	chr7:2848448-2881872	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1182176	GNA12	cis	Artery Tibial	GTEx
rs1182176	GNA12	Cis_1M	lymphoblastoid	RTeQTL
rs1182176	GNA12	cis	Nerve Tibial	GTEx
rs1182176	GNA12	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2848800-2874800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:2851800-2882800	Weak transcription	Aorta	Aorta
3	chr7:2854000-2874800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:2861000-2881800	Weak transcription	Colonic Mucosa	Colon
5	chr7:2861200-2877000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:2861400-2876600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:2861400-2882200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:2861400-2883000	Weak transcription	Thymus	Thymus
9	chr7:2861800-2882400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:2862200-2882600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:2862800-2882400	Weak transcription	A549	lung
12	chr7:2863000-2878600	Weak transcription	Small Intestine	intestine
13	chr7:2863200-2876600	Weak transcription	HUVEC	blood vessel
14	chr7:2863800-2881600	Weak transcription	HMEC	breast
15	chr7:2864200-2881000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:2864200-2882800	Weak transcription	Esophagus	oesophagus
17	chr7:2864600-2875000	Weak transcription	Gastric	stomach
18	chr7:2864800-2877200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:2864800-2878600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:2864800-2881800	Weak transcription	Fetal Thymus	thymus
21	chr7:2865000-2877000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:2865000-2882400	Weak transcription	Fetal Kidney	kidney
23	chr7:2865200-2876600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:2865200-2877800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:2865200-2878600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:2865400-2877200	Weak transcription	Fetal Brain Male	brain
27	chr7:2865400-2877200	Weak transcription	Stomach Mucosa	stomach
28	chr7:2865400-2878600	Weak transcription	Brain Substantia Nigra	brain
29	chr7:2865400-2879600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:2865400-2882600	Weak transcription	HSMMtube	muscle
31	chr7:2865600-2880200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:2865600-2883000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:2865800-2877000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:2867800-2877000	Strong transcription	Fetal Stomach	stomach
35	chr7:2868000-2877000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:2868200-2876600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:2868200-2877000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:2868600-2877000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:2868800-2876000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:2869200-2875000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:2869200-2875800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:2869200-2876600	Strong transcription	Fetal Muscle Leg	muscle
43	chr7:2869400-2876200	Strong transcription	Primary T cells from cord blood	blood
44	chr7:2869600-2877000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:2870400-2881400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:2871000-2878600	Weak transcription	Hela-S3	cervix
47	chr7:2871400-2875600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr7:2871600-2875600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:2871600-2876200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:2871600-2876400	Strong transcription	Stomach Smooth Muscle	stomach

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