Variant report

Variant	rs12401916
Chromosome Location	chr1:94314564-94314565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr1:94311055-94314618	IMR90	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
2	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
3	chr1:94313358..94316025-chr1:94316812..94319394,2	MCF-7	breast:
4	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
5	chr1:94312529..94314745-chr1:94335727..94337365,2	MCF-7	breast:
6	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FNBP1L-2	chr1:94312708-94317158	NONHSAT004550

No data

Variant related genes	Relation type
BCAR3	TF binding region
ENSG00000023909	Chromatin interaction
ENSG00000067334	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10158331	1.00[EUR][1000 genomes]
rs12405426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12410324	1.00[AFR][1000 genomes]
rs17110570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4393168	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription 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	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94313800-94314600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:94314000-94314600	Enhancers	Fetal Brain Female	brain
3	chr1:94314000-94315600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:94314000-94316000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:94314000-94316000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:94314000-94316000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:94314000-94316000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:94314000-94316200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:94314200-94314600	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:94314200-94316000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:94314200-94316200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:94314200-94316200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:94314200-94316200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:94314200-94316200	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:94314200-94316200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:94314200-94316200	Weak transcription	K562	blood
17	chr1:94314200-94317000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:94314200-94332800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:94314200-94334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:94314200-94334400	Weak transcription	Brain Substantia Nigra	brain
21	chr1:94314400-94314600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:94314400-94316000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:94314400-94316000	Weak transcription	Brain Anterior Caudate	brain
24	chr1:94314400-94316000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:94314400-94316200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:94314400-94316200	Weak transcription	Hela-S3	cervix

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