Variant report

Variant	rs1474496
Chromosome Location	chr1:85743213-85743214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:85740468-85743570	PANC-1	pancreas:	n/a	n/a
2	SRF	chr1:85741576-85743216	HCT-116	colon:	n/a	n/a
3	POLR2A	chr1:85741274-85743242	PANC-1	pancreas:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85739753..85743262-chr1:86045535..86049012,3	K562	blood:
2	chr1:85742187..85745018-chr1:85749555..85753087,3	K562	blood:
3	chr1:85665631..85669772-chr1:85739485..85744059,5	K562	blood:
4	chr1:85722628..85726570-chr1:85740869..85744448,4	MCF-7	breast:
5	chr1:85723214..85729954-chr1:85738689..85743771,11	K562	blood:
6	chr1:85665227..85667257-chr1:85740935..85743875,2	K562	blood:
7	chr1:85741905..85744580-chr1:85747619..85751624,6	K562	blood:
8	chr1:85739584..85746681-chr1:86042287..86049012,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223653	TF binding region
BCL10	TF binding region
ENSG00000153904	Chromatin interaction
ENSG00000264380	Chromatin interaction
ENSG00000162642	Chromatin interaction
ENSG00000142871	Chromatin interaction
ENSG00000272691	Chromatin interaction
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1802445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2647397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85740800-85743400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:85741200-85743400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:85741800-85743400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:85742200-85744600	Weak transcription	Gastric	stomach
5	chr1:85742200-85744800	Weak transcription	Spleen	Spleen
6	chr1:85742800-85743400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:85742800-85743400	Enhancers	Lung	lung
8	chr1:85742800-85744400	Weak transcription	Small Intestine	intestine
9	chr1:85742800-85744600	Weak transcription	Pancreas	Pancrea
10	chr1:85742800-85744600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:85742800-85744600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:85742800-85763000	Weak transcription	Ovary	ovary
13	chr1:85743000-85743400	Enhancers	Primary B cells from cord blood	blood
14	chr1:85743000-85743400	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:85743000-85743400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:85743000-85743400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:85743000-85743400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:85743000-85743400	Enhancers	A549	lung
19	chr1:85743000-85743800	Enhancers	Fetal Heart	heart
20	chr1:85743000-85744200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:85743000-85744200	Weak transcription	Adipose Nuclei	Adipose
22	chr1:85743000-85744400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:85743000-85744400	Weak transcription	HSMM	muscle
24	chr1:85743000-85744400	Weak transcription	HSMMtube	muscle
25	chr1:85743000-85744400	Weak transcription	K562	blood
26	chr1:85743000-85744400	Weak transcription	NHLF	lung
27	chr1:85743000-85744600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:85743000-85744600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:85743000-85744600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:85743000-85744600	Weak transcription	Fetal Kidney	kidney
31	chr1:85743000-85744600	Enhancers	HUVEC	blood vessel
32	chr1:85743000-85744800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:85743000-85745400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:85743000-85746000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:85743000-85747400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:85743000-85749200	Weak transcription	Fetal Stomach	stomach
37	chr1:85743000-85749200	Weak transcription	Psoas Muscle	Psoas
38	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
39	chr1:85743200-85743400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:85743200-85743400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:85743200-85743400	Active TSS	Dnd41	blood
42	chr1:85743200-85743400	Enhancers	GM12878-XiMat	blood
43	chr1:85743200-85743600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:85743200-85743600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:85743200-85743600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr1:85743200-85744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:85743200-85744000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:85743200-85744000	Enhancers	HepG2	liver
49	chr1:85743200-85744200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:85743200-85744200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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