Variant report

Variant	rs72640309
Chromosome Location	chr1:10358065-10358066
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	STAT3	chr1:10357678-10358186	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-37P	TF binding region

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

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

rs_ID	r²[population]
rs55792417	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72640311	1.00[AMR][1000 genomes];0.86[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	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	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	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
5	nsv545382	chr1:10309026-10377221	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10314200-10363400	Weak transcription	Fetal Brain Male	brain
3	chr1:10315400-10373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:10318400-10367600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:10320600-10363000	Weak transcription	Gastric	stomach
7	chr1:10321400-10359000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:10322800-10363200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:10331600-10368000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:10332200-10363800	Weak transcription	Thymus	Thymus
11	chr1:10333200-10359200	Weak transcription	Stomach Mucosa	stomach
12	chr1:10334400-10360000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:10335000-10360000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:10335600-10359000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr1:10335800-10359000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:10343800-10358800	Strong transcription	NHDF-Ad	bronchial
17	chr1:10344000-10359200	Weak transcription	GM12878-XiMat	blood
18	chr1:10344000-10363400	Weak transcription	K562	blood
19	chr1:10345200-10359400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:10345600-10361800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:10346000-10358400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:10347400-10363200	Weak transcription	Pancreas	Pancrea
23	chr1:10347400-10365400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:10347800-10366800	Strong transcription	HSMM	muscle
25	chr1:10348200-10367600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:10348400-10358600	Strong transcription	Fetal Lung	lung
27	chr1:10348400-10360000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:10348600-10359000	Strong transcription	Fetal Muscle Leg	muscle
29	chr1:10348800-10358800	Strong transcription	NH-A	brain
30	chr1:10348800-10360000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:10349200-10358400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:10349800-10360000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:10349800-10369400	Weak transcription	Right Atrium	heart
34	chr1:10350000-10358800	Strong transcription	Left Ventricle	heart
35	chr1:10350000-10363400	Weak transcription	Spleen	Spleen
36	chr1:10350400-10358400	Strong transcription	Fetal Intestine Large	intestine
37	chr1:10351000-10359800	Strong transcription	Osteobl	bone
38	chr1:10351600-10359600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:10351800-10359600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:10352000-10358800	Strong transcription	Placenta	Placenta
41	chr1:10352000-10360000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr1:10352000-10361400	Strong transcription	HSMMtube	muscle
43	chr1:10352000-10366800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:10352200-10360000	Strong transcription	HUVEC	blood vessel
45	chr1:10352600-10366000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:10352600-10381800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:10352800-10359800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:10352800-10363200	Weak transcription	A549	lung
49	chr1:10353200-10381800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:10353400-10358800	Strong transcription	H1 Cell Line	embryonic stem cell

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