Variant report

Variant	rs7534136
Chromosome Location	chr1:10533341-10533342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr1:10531760-10533473	K562	blood:	n/a	n/a
2	POLR2A	chr1:10532073-10533485	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:10533203-10533553	K562	blood:	n/a	n/a
4	POLR2A	chr1:10531843-10533584	GM12892	blood:	n/a	n/a
5	MAX	chr1:10533243-10533512	K562	blood:	n/a	n/a
6	POLR2A	chr1:10531884-10533592	GM15510	blood:	n/a	n/a
7	POLR2A	chr1:10532082-10533539	GM12891	blood:	n/a	n/a
8	JUND	chr1:10533305-10533658	K562	blood:	n/a	n/a
9	POLR2A	chr1:10533162-10533772	GM12892	blood:	n/a	n/a
10	IRF1	chr1:10531723-10533377	K562	blood:	n/a	n/a
11	MAX	chr1:10533250-10533744	K562	blood:	n/a	n/a
12	MYC	chr1:10531703-10533880	K562	blood:	n/a	n/a
13	POLR2A	chr1:10532238-10533374	K562	blood:	n/a	n/a
14	EGR1	chr1:10533181-10533635	K562	blood:	n/a	n/a
15	POLR2A	chr1:10532113-10533596	K562	blood:	n/a	n/a
16	MAX	chr1:10533338-10533631	K562	blood:	n/a	n/a
17	IRF1	chr1:10532335-10533342	K562	blood:	n/a	n/a
18	TAF1	chr1:10533207-10533626	K562	blood:	n/a	n/a
19	E2F6	chr1:10533299-10533492	K562	blood:	n/a	n/a
20	YY1	chr1:10533257-10533730	K562	blood:	n/a	n/a
21	SREBP1	chr1:10531974-10533485	GM12878	blood:	n/a	n/a
22	HCFC1	chr1:10531579-10533370	Hela-S3	cervix:	n/a	n/a
23	HEY1	chr1:10533143-10533676	K562	blood:	n/a	n/a
24	POLR2A	chr1:10531885-10533665	GM18505	blood:	n/a	n/a
25	ARID3A	chr1:10532496-10533506	K562	blood:	n/a	n/a
26	RCOR1	chr1:10533305-10533593	K562	blood:	n/a	n/a
27	POLR2A	chr1:10532216-10533609	K562	blood:	n/a	n/a
28	POLR2A	chr1:10533204-10533505	K562	blood:	n/a	n/a
29	YY1	chr1:10533262-10533581	K562	blood:	n/a	n/a
30	EP300	chr1:10532363-10533545	K562	blood:	n/a	chr1:10533036-10533050 chr1:10533147-10533157 chr1:10532940-10532949
31	POLR2A	chr1:10531936-10533430	K562	blood:	n/a	n/a
32	POLR2A	chr1:10532020-10533635	K562	blood:	n/a	n/a
33	POLR2A	chr1:10533170-10533732	K562	blood:	n/a	n/a
34	TEAD4	chr1:10531517-10533595	K562	blood:	n/a	n/a
35	POLR2A	chr1:10531918-10533668	GM19099	blood:	n/a	n/a
36	EGR1	chr1:10533231-10533514	K562	blood:	n/a	n/a
37	TAF1	chr1:10533250-10533488	K562	blood:	n/a	n/a
38	HDAC2	chr1:10533259-10533580	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:10528950..10534210-chr1:10534257..10537658,6	K562	blood:
2	chr1:10457403..10461622-chr1:10531171..10536559,7	K562	blood:
3	chr1:10517930..10519443-chr1:10532494..10534240,2	K562	blood:
4	chr1:10489993..10493018-chr1:10531254..10535234,5	MCF-7	breast:
5	chr1:10457604..10459438-chr1:10532689..10534375,2	K562	blood:
6	chr1:10490607..10494447-chr1:10532445..10535163,5	K562	blood:
7	chr1:10488008..10492443-chr1:10531123..10534892,8	K562	blood:
8	chr1:10494601..10496370-chr1:10532163..10533964,2	K562	blood:

No data

Variant related genes	Relation type
DFFA	TF binding region
PEX14	TF binding region
ENSG00000175279	Chromatin interaction
ENSG00000271989	Chromatin interaction
ENSG00000142655	Chromatin interaction
ENSG00000251503	Chromatin interaction
ENSG00000203469	Chromatin interaction
ENSG00000142657	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12080975	1.00[AMR][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	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10531400-10533400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr1:10532000-10534200	Active TSS	GM12878-XiMat	blood
3	chr1:10532200-10533400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:10532200-10533400	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr1:10532200-10533600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:10532200-10533600	Active TSS	K562	blood
7	chr1:10532600-10534600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:10532600-10534600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:10532600-10535000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:10532800-10533400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr1:10532800-10533400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr1:10532800-10533400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:10532800-10533400	Flanking Active TSS	Dnd41	blood
14	chr1:10532800-10533600	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr1:10532800-10535000	Weak transcription	Spleen	Spleen
16	chr1:10533000-10533400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:10533000-10533400	Enhancers	Liver	Liver
18	chr1:10533000-10533400	Enhancers	Lung	lung
19	chr1:10533000-10533800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:10533000-10534600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:10533000-10534600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:10533000-10534600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:10533000-10534600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:10533000-10534600	Weak transcription	Brain Germinal Matrix	brain
25	chr1:10533000-10534600	Weak transcription	Fetal Brain Female	brain
26	chr1:10533000-10534600	Weak transcription	Left Ventricle	heart
27	chr1:10533000-10534600	Weak transcription	Ovary	ovary
28	chr1:10533000-10534600	Weak transcription	Pancreas	Pancrea
29	chr1:10533000-10534600	Weak transcription	Right Ventricle	heart
30	chr1:10533000-10534600	Weak transcription	Small Intestine	intestine
31	chr1:10533000-10534600	Weak transcription	HSMM	muscle
32	chr1:10533000-10534600	Weak transcription	HUVEC	blood vessel
33	chr1:10533000-10534800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:10533000-10534800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:10533000-10534800	Weak transcription	Esophagus	oesophagus
36	chr1:10533000-10534800	Weak transcription	Gastric	stomach
37	chr1:10533000-10534800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:10533000-10535000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:10533000-10535000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:10533000-10535000	Weak transcription	Aorta	Aorta
41	chr1:10533000-10535000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:10533200-10533400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:10533200-10533400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr1:10533200-10533400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:10533200-10533400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr1:10533200-10533400	Enhancers	Adipose Nuclei	Adipose
47	chr1:10533200-10533400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr1:10533200-10533400	Enhancers	Fetal Muscle Trunk	muscle
49	chr1:10533200-10533400	Enhancers	Fetal Muscle Leg	muscle
50	chr1:10533200-10533400	Enhancers	Thymus	Thymus

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