Variant report

Variant	rs7644241
Chromosome Location	chr3:52236315-52236316
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:52236306-52237147	HL-60	blood:	n/a	n/a
2	NFATC1	chr3:52236294-52237048	GM12878	blood:	n/a	n/a
3	MTA3	chr3:52236312-52237148	GM12878	blood:	n/a	n/a
4	NFATC1	chr3:52236205-52236720	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:11603060..11603560-chr3:52236093..52236923,2	NB4	blood:
2	chr3:52230732..52234949-chr3:52236127..52239754,6	K562	blood:
3	chr3:52230039..52234196-chr3:52236127..52242387,6	K562	blood:
4	chr3:52235265..52238007-chr3:52238967..52240891,2	K562	blood:
5	chr3:52231540..52234351-chr3:52235459..52240031,5	MCF-7	breast:

No data

Variant related genes	Relation type
ALAS1	TF binding region
ENSG00000023330	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs34991570	1.00[AMR][1000 genomes]
rs55931436	1.00[AMR][1000 genomes]
rs56263308	1.00[AMR][1000 genomes]
rs57265663	1.00[AMR][1000 genomes]
rs60063053	1.00[AMR][1000 genomes]
rs61589587	1.00[AMR][1000 genomes]
rs61734625	1.00[AMR][1000 genomes]
rs61738522	1.00[AMR][1000 genomes]
rs6765965	1.00[AMR][1000 genomes]
rs6778451	1.00[AMR][1000 genomes]
rs6789826	1.00[AMR][1000 genomes]
rs73835708	1.00[AMR][1000 genomes]
rs73835711	1.00[AMR][1000 genomes]
rs73835763	1.00[AMR][1000 genomes]
rs73835764	1.00[AMR][1000 genomes]
rs73835767	1.00[AMR][1000 genomes]
rs73835769	1.00[AMR][1000 genomes]
rs73835772	1.00[AMR][1000 genomes]
rs73835773	1.00[AMR][1000 genomes]
rs73835774	1.00[AMR][1000 genomes]
rs73837050	1.00[AMR][1000 genomes]
rs73837051	1.00[AMR][1000 genomes]
rs73837056	1.00[AMR][1000 genomes]
rs73837058	1.00[AMR][1000 genomes]
rs73838346	1.00[AMR][1000 genomes]
rs73838349	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
5	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv508218	chr3:52155869-52290410	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
9	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52233000-52236400	Weak transcription	Aorta	Aorta
2	chr3:52233000-52241600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:52233000-52245200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:52233400-52236400	Weak transcription	Ovary	ovary
5	chr3:52233400-52236600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:52233400-52237000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:52233400-52237800	Genic enhancers	Primary B cells from cord blood	blood
8	chr3:52233400-52249600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:52233400-52249800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:52233400-52250000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:52233400-52250000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:52233600-52236400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:52233600-52236400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:52233600-52236400	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:52233600-52236400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:52233600-52236400	Weak transcription	Esophagus	oesophagus
17	chr3:52233600-52236400	Weak transcription	Fetal Brain Male	brain
18	chr3:52233600-52236400	Strong transcription	Fetal Intestine Large	intestine
19	chr3:52233600-52236400	Weak transcription	Psoas Muscle	Psoas
20	chr3:52233600-52236400	Weak transcription	Right Ventricle	heart
21	chr3:52233600-52236600	Weak transcription	Pancreas	Pancrea
22	chr3:52233600-52236600	Weak transcription	Thymus	Thymus
23	chr3:52233600-52237000	Weak transcription	Stomach Mucosa	stomach
24	chr3:52233600-52238000	Strong transcription	HMEC	breast
25	chr3:52233600-52238800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:52233600-52239400	Strong transcription	Osteobl	bone
27	chr3:52233600-52249000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:52233600-52249200	Strong transcription	Fetal Muscle Leg	muscle
29	chr3:52233600-52249600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:52233600-52250000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:52233600-52250000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:52233600-52250000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:52233600-52250200	Strong transcription	Fetal Stomach	stomach
34	chr3:52233800-52236400	Weak transcription	Brain Angular Gyrus	brain
35	chr3:52233800-52236400	Weak transcription	Colonic Mucosa	Colon
36	chr3:52233800-52236400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:52233800-52236400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr3:52233800-52236600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr3:52233800-52236600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:52233800-52236600	Weak transcription	Fetal Heart	heart
41	chr3:52233800-52236600	Weak transcription	Small Intestine	intestine
42	chr3:52233800-52237200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr3:52233800-52238200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:52233800-52238200	Strong transcription	NHEK	skin
45	chr3:52233800-52249600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:52233800-52250000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr3:52233800-52250400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:52234200-52239600	Strong transcription	NH-A	brain
49	chr3:52234400-52236800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:52234400-52237000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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