Variant report

Variant	rs7640619
Chromosome Location	chr3:47951234-47951235
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	MAFK	chr3:47951137-47951467	HepG2	liver:	n/a	n/a
2	MAFF	chr3:47951231-47951445	K562	blood:	n/a	chr3:47951309-47951327
3	BACH1	chr3:47951220-47951243	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr3:47951055-47951454	K562	blood:	n/a	n/a
5	MAFF	chr3:47951163-47951474	HepG2	liver:	n/a	chr3:47951309-47951327
6	MAFK	chr3:47951164-47951468	IMR90	lung:	n/a	n/a
7	MAFK	chr3:47951132-47951472	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:47950991-47951416	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47843314..47845660-chr3:47950504..47953455,2	MCF-7	breast:

Variant related genes	Relation type
MAP4	TF binding region
ENSG00000132153	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34675858	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv1011662	chr3:47891634-48019462	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv536561	chr3:47891634-48019462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv1796001	chr3:47912703-48012797	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1826403	chr3:47912703-48012797	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong 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	7 gene(s)	inside rSNPs	diseases
9	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1000817	chr3:47927730-48032401	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
12	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47910200-47957000	Weak transcription	Small Intestine	intestine
2	chr3:47910200-47978000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:47917600-47957400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:47922000-47951400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:47926800-47953400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:47926800-47957400	Weak transcription	Colonic Mucosa	Colon
7	chr3:47932000-47969200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:47933200-47953200	Weak transcription	Fetal Kidney	kidney
9	chr3:47933800-47952200	Weak transcription	Psoas Muscle	Psoas
10	chr3:47933800-47953000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr3:47934000-47952400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:47934000-47952400	Weak transcription	Spleen	Spleen
13	chr3:47934000-47952800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr3:47934200-47952000	Weak transcription	Ovary	ovary
15	chr3:47934200-47952400	Weak transcription	Esophagus	oesophagus
16	chr3:47934200-47952600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:47934200-47953400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:47934200-47957200	Weak transcription	Gastric	stomach
19	chr3:47934400-47952200	Weak transcription	A549	lung
20	chr3:47934800-47956800	Weak transcription	Fetal Brain Female	brain
21	chr3:47935200-47953200	Weak transcription	Brain Germinal Matrix	brain
22	chr3:47935200-47957200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:47935600-47952200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:47935800-47952600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:47935800-47956200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:47935800-47956800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:47937400-47953400	Weak transcription	Thymus	Thymus
28	chr3:47937600-47952400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:47938600-47953200	Weak transcription	Brain Substantia Nigra	brain
30	chr3:47939200-47951800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:47939800-47952000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:47940200-47952000	Weak transcription	Dnd41	blood
33	chr3:47940200-47952400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:47940200-47952800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr3:47940800-47952000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:47941400-47952000	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:47941400-47954600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr3:47941400-47954800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:47941400-47968000	Weak transcription	Stomach Mucosa	stomach
40	chr3:47941600-47952400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:47941800-47952000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr3:47942600-47963600	Strong transcription	Fetal Muscle Leg	muscle
43	chr3:47943000-47952600	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:47943000-47957200	Weak transcription	Fetal Heart	heart
45	chr3:47943200-47952400	Weak transcription	Right Ventricle	heart
46	chr3:47943200-47957200	Weak transcription	Aorta	Aorta
47	chr3:47943400-47957000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:47943800-47952600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr3:47944000-47951800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:47944600-47952000	Weak transcription	Liver	Liver

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