Variant report

Variant	rs7812685
Chromosome Location	chr8:130897872-130897873
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	ZNF384	chr8:130897803-130898278	GM12878	blood:	n/a	n/a
2	ATF2	chr8:130897836-130898390	GM12878	blood:	n/a	n/a
3	FOXM1	chr8:130897862-130898376	GM12878	blood:	n/a	chr8:130898012-130898020
4	ATF1	chr8:130897746-130898286	K562	blood:	n/a	n/a
5	JUND	chr8:130897825-130898270	K562	blood:	n/a	n/a
6	MAZ	chr8:130897793-130897931	K562	blood:	n/a	n/a
7	CTCF	chr8:130897860-130898010	BE2_C	brain:	n/a	n/a
8	RUNX3	chr8:130897703-130898776	GM12878	blood:	n/a	chr8:130898107-130898116 chr8:130898107-130898116 chr8:130898107-130898124
9	RUNX3	chr8:130897761-130898473	GM12878	blood:	n/a	chr8:130898107-130898116 chr8:130898107-130898116 chr8:130898107-130898124
10	EGR1	chr8:130897726-130897994	K562	blood:	n/a	n/a
11	TAL1	chr8:130897852-130897905	K562	blood:	n/a	n/a
12	RCOR1	chr8:130897753-130898318	K562	blood:	n/a	n/a
13	CTCF	chr8:130897740-130897890	GM12872	blood:	n/a	n/a
14	NFIC	chr8:130897789-130898780	GM12878	blood:	n/a	n/a
15	GATA1	chr8:130897495-130898206	PBDE	blood:	n/a	chr8:130898147-130898157
16	EP300	chr8:130897790-130898562	GM12878	blood:	n/a	chr8:130898096-130898110

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130896320..130899230-chr8:130903972..130906080,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254263	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10087750	1.00[EUR][1000 genomes]
rs10088317	1.00[ASN][1000 genomes]
rs10090126	1.00[EUR][1000 genomes]
rs10091204	1.00[EUR][1000 genomes]
rs10091754	1.00[EUR][1000 genomes]
rs10092658	1.00[ASN][1000 genomes]
rs10093443	1.00[EUR][1000 genomes]
rs10095752	1.00[EUR][1000 genomes]
rs10097321	1.00[EUR][1000 genomes]
rs10098794	1.00[EUR][1000 genomes]
rs10101179	1.00[EUR][1000 genomes]
rs10102037	1.00[EUR][1000 genomes]
rs10108374	1.00[EUR][1000 genomes]
rs10111220	1.00[ASN][1000 genomes]
rs10112738	1.00[ASN][1000 genomes]
rs10283332	1.00[EUR][1000 genomes]
rs10481174	1.00[ASN][1000 genomes]
rs11984716	1.00[EUR][1000 genomes]
rs12334601	1.00[EUR][1000 genomes]
rs16904147	1.00[EUR][1000 genomes]
rs16904151	1.00[EUR][1000 genomes]
rs16904182	1.00[ASN][1000 genomes]
rs17194407	1.00[ASN][1000 genomes]
rs17194571	1.00[ASN][1000 genomes]
rs17194770	1.00[ASN][1000 genomes]
rs17279655	1.00[ASN][1000 genomes]
rs1871943	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28380012	1.00[EUR][1000 genomes]
rs28411256	1.00[ASN][1000 genomes]
rs28417973	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472437	1.00[EUR][1000 genomes]
rs28520393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533697	1.00[EUR][1000 genomes]
rs28550585	1.00[EUR][1000 genomes]
rs28578248	1.00[EUR][1000 genomes]
rs28593681	1.00[EUR][1000 genomes]
rs28633939	1.00[EUR][1000 genomes]
rs28656330	1.00[EUR][1000 genomes]
rs28682337	1.00[EUR][1000 genomes]
rs28682439	1.00[ASN][1000 genomes]
rs28685780	1.00[EUR][1000 genomes]
rs28795370	1.00[EUR][1000 genomes]
rs55662234	1.00[EUR][1000 genomes]
rs55755123	1.00[EUR][1000 genomes]
rs55864361	1.00[EUR][1000 genomes]
rs56770303	1.00[EUR][1000 genomes]
rs58136260	1.00[EUR][1000 genomes]
rs59372581	1.00[EUR][1000 genomes]
rs59501802	1.00[EUR][1000 genomes]
rs59799475	1.00[EUR][1000 genomes]
rs60229064	1.00[EUR][1000 genomes]
rs60282920	1.00[EUR][1000 genomes]
rs60366798	1.00[EUR][1000 genomes]
rs60403203	1.00[EUR][1000 genomes]
rs61417675	1.00[EUR][1000 genomes]
rs6999729	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6999887	1.00[EUR][1000 genomes]
rs7011549	1.00[EUR][1000 genomes]
rs7013939	1.00[EUR][1000 genomes]
rs72718397	1.00[ASN][1000 genomes]
rs72718400	1.00[ASN][1000 genomes]
rs72720304	1.00[ASN][1000 genomes]
rs73712950	1.00[EUR][1000 genomes]
rs73712955	1.00[EUR][1000 genomes]
rs73712957	1.00[EUR][1000 genomes]
rs73712989	1.00[EUR][1000 genomes]
rs7812863	1.00[EUR][1000 genomes]
rs7814585	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817091	1.00[ASN][1000 genomes]
rs7825122	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831443	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837729	1.00[ASN][1000 genomes]
rs9693205	1.00[EUR][1000 genomes]
rs9886600	0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:130864800-130898200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:130865400-130899200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:130865600-130907600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:130874000-130899000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:130875800-130899400	Weak transcription	Fetal Intestine Large	intestine
7	chr8:130877200-130898800	Weak transcription	Lung	lung
8	chr8:130882800-130898800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:130883200-130899000	Weak transcription	Placenta	Placenta
10	chr8:130883200-130899200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:130883400-130899400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:130883400-130900400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:130883800-130898800	Weak transcription	Adipose Nuclei	Adipose
14	chr8:130885200-130900200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:130885200-130912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:130887600-130898400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:130887800-130898200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:130888600-130899400	Weak transcription	Fetal Stomach	stomach
19	chr8:130888800-130910600	Weak transcription	Aorta	Aorta
20	chr8:130889000-130898200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:130891000-130898200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:130893600-130899200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:130893800-130898800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:130893800-130899800	Enhancers	Hela-S3	cervix
25	chr8:130894400-130899000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:130894400-130901000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:130894600-130899800	Enhancers	HSMM	muscle
28	chr8:130894600-130900000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:130894600-130901000	Enhancers	HUVEC	blood vessel
30	chr8:130894800-130901000	Enhancers	HMEC	breast
31	chr8:130895000-130898200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:130895000-130900200	Enhancers	HSMMtube	muscle
33	chr8:130895200-130898200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr8:130895200-130901000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:130895600-130900800	Enhancers	Fetal Heart	heart
36	chr8:130895800-130898000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:130895800-130899400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:130895800-130899600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:130895800-130899600	Enhancers	Osteobl	bone
40	chr8:130895800-130900800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:130896000-130899400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:130896400-130898000	Weak transcription	NHLF	lung
43	chr8:130896400-130898200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:130896400-130898200	Weak transcription	NHDF-Ad	bronchial
45	chr8:130896400-130898800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:130896400-130899000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:130896400-130899000	Weak transcription	HepG2	liver
48	chr8:130896400-130899600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr8:130896400-130902000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:130896400-130906600	Weak transcription	Fetal Muscle Leg	muscle

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