Variant report

Variant	rs7955373
Chromosome Location	chr12:74930874-74930875
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	RAD21	chr12:74930749-74932031	SK-N-SH	brain:	n/a	chr12:74931180-74931187 chr12:74931170-74931189
2	CTCF	chr12:74930800-74930950	HMEC	breast:	n/a	n/a
3	RAD21	chr12:74930761-74931905	HCT-116	colon:	n/a	chr12:74931180-74931187 chr12:74931170-74931189
4	MXI1	chr12:74930680-74934315	SK-N-SH	brain:	n/a	chr12:74932789-74932798
5	CTCF	chr12:74930750-74933046	SK-N-SH	brain:	n/a	chr12:74931174-74931187 chr12:74931167-74931188 chr12:74931172-74931190 chr12:74931177-74931185 chr12:74931173-74931189
6	MAX	chr12:74930744-74933122	A549	lung:	n/a	chr12:74932790-74932800 chr12:74932789-74932800 chr12:74932790-74932799 chr12:74932788-74932801 chr12:74932790-74932800 chr12:74932788-74932801 chr12:74932786-74932801 chr12:74932789-74932800 chr12:74932791-74932800 chr12:74932792-74932799 chr12:74932789-74932800 chr12:74932789-74932798 chr12:74932788-74932801
7	CTCF	chr12:74930866-74931735	HCT-116	colon:	n/a	chr12:74931174-74931187 chr12:74931167-74931188 chr12:74931172-74931190 chr12:74931177-74931185 chr12:74931173-74931189
8	CTCF	chr12:74930860-74931010	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr12:74930840-74932138	K562	blood:	n/a	chr12:74931174-74931187 chr12:74931167-74931188 chr12:74931172-74931190 chr12:74931177-74931185 chr12:74931173-74931189
10	RAD21	chr12:74930835-74931515	A549	lung:	n/a	chr12:74931180-74931187 chr12:74931170-74931189
11	FOSL2	chr12:74930846-74931746	A549	lung:	n/a	chr12:74931646-74931654 chr12:74931647-74931658 chr12:74930980-74930992
12	CTCF	chr12:74930675-74932002	A549	lung:	n/a	chr12:74931174-74931187 chr12:74931167-74931188 chr12:74931172-74931190 chr12:74931177-74931185 chr12:74931173-74931189
13	RAD21	chr12:74930839-74931526	MCF-7	breast:	n/a	chr12:74931180-74931187 chr12:74931170-74931189
14	GATA1	chr12:74930762-74932109	PBDE	blood:	n/a	chr12:74931008-74931017 chr12:74931735-74931748 chr12:74931436-74931449
15	RAD21	chr12:74930871-74931883	HCT-116	colon:	n/a	chr12:74931180-74931187 chr12:74931170-74931189
16	REST	chr12:74930833-74932121	A549	lung:	n/a	chr12:74931502-74931522 chr12:74931502-74931522 chr12:74931816-74931836

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:74687125..74689371-chr12:74929648..74931476,2	K562	blood:

Variant related genes	Relation type
ATXN7L3B	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10506691	1.00[EUR][1000 genomes]
rs11180130	1.00[EUR][1000 genomes]
rs11180131	1.00[EUR][1000 genomes]
rs12301887	1.00[EUR][1000 genomes]
rs12304380	1.00[EUR][1000 genomes]
rs12305557	1.00[EUR][1000 genomes]
rs12309066	1.00[EUR][1000 genomes]
rs12315304	1.00[EUR][1000 genomes]
rs12319566	1.00[EUR][1000 genomes]
rs12322704	1.00[EUR][1000 genomes]
rs1493814	1.00[EUR][1000 genomes]
rs1493815	1.00[EUR][1000 genomes]
rs1493817	1.00[EUR][1000 genomes]
rs17113816	1.00[EUR][1000 genomes]
rs17113895	1.00[EUR][1000 genomes]
rs1982597	1.00[EUR][1000 genomes]
rs2641504	1.00[EUR][1000 genomes]
rs2641506	1.00[EUR][1000 genomes]
rs59771966	1.00[EUR][1000 genomes]
rs59917367	1.00[EUR][1000 genomes]
rs60316938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7133693	1.00[EUR][1000 genomes]
rs73350901	1.00[EUR][1000 genomes]
rs73351333	1.00[EUR][1000 genomes]
rs73352806	1.00[EUR][1000 genomes]
rs73352828	1.00[EUR][1000 genomes]
rs73355954	1.00[EUR][1000 genomes]
rs74105463	1.00[EUR][1000 genomes]
rs7961059	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs980785	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899292	chr12:74835107-74934162	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv559414	chr12:74850206-74931349	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv559417	chr12:74857957-74931349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
7	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
8	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74930200-74932400	Active TSS	A549	lung
2	chr12:74930600-74931000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:74930600-74931000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:74930600-74931000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:74930600-74931800	Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr12:74930600-74932400	Active TSS	Placenta	Placenta
7	chr12:74930600-74932400	Active TSS	Psoas Muscle	Psoas
8	chr12:74930600-74932400	Active TSS	HSMM	muscle
9	chr12:74930600-74932800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:74930800-74931000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:74930800-74931000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:74930800-74931000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr12:74930800-74931000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:74930800-74931000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr12:74930800-74931000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:74930800-74931000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:74930800-74931000	Enhancers	Liver	Liver
18	chr12:74930800-74931000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:74930800-74931000	Enhancers	Fetal Heart	heart
20	chr12:74930800-74931000	Flanking Active TSS	HUVEC	blood vessel
21	chr12:74930800-74931000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:74930800-74931200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr12:74930800-74931200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:74930800-74931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:74930800-74931200	Enhancers	Stomach Mucosa	stomach
26	chr12:74930800-74931200	Flanking Active TSS	Dnd41	blood
27	chr12:74930800-74931400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr12:74930800-74931400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr12:74930800-74931400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr12:74930800-74931400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr12:74930800-74931800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr12:74930800-74931800	Active TSS	Muscle Satellite Cultured Cells	--
33	chr12:74930800-74931800	Active TSS	Brain Germinal Matrix	brain
34	chr12:74930800-74931800	Active TSS	HepG2	liver
35	chr12:74930800-74932000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr12:74930800-74932000	Active TSS	Adipose Nuclei	Adipose
37	chr12:74930800-74932000	Active TSS	Stomach Smooth Muscle	stomach
38	chr12:74930800-74932200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:74930800-74932200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr12:74930800-74932200	Active TSS	Fetal Muscle Leg	muscle
41	chr12:74930800-74932200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr12:74930800-74932200	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr12:74930800-74932200	Active TSS	NH-A	brain
44	chr12:74930800-74932200	Active TSS	Osteobl	bone
45	chr12:74930800-74932400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:74930800-74932400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:74930800-74932400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:74930800-74932400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:74930800-74932400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:74930800-74932400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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