Variant report

Variant	rs4608576
Chromosome Location	chr2:47573570-47573571
allele	A/C/G/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	JUND	chr2:47571913-47573800	H1-hESC	embryonic stem cell:	n/a	chr2:47572397-47572406 chr2:47573211-47573222
2	MXI1	chr2:47571245-47574117	SK-N-SH	brain:	n/a	chr2:47572238-47572247
3	REST	chr2:47571653-47573580	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr2:47571289-47573788	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUN	chr2:47573303-47573600	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBP	chr2:47571916-47573580	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr2:47573262-47573573	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:47559485..47574826-chr2:47594341..47605593,65	MCF-7	breast:
2	chr2:47572455..47576210-chr2:47579950..47583460,6	K562	blood:
3	chr2:47560518..47577182-chr2:47592669..47600258,43	MCF-7	breast:
4	chr2:47570416..47573787-chr2:47628581..47633320,5	MCF-7	breast:
5	chr2:47571726..47575826-chr2:47629274..47632481,3	MCF-7	breast:
6	chr2:47572404..47574648-chr2:47580578..47582565,2	K562	blood:

Variant related genes	Relation type
ENSG00000234690	TF binding region
ENSG00000119888	Chromatin interaction
ENSG00000095002	Chromatin interaction
ENSG00000207923	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4952884	0.84[ASN][1000 genomes]
rs7586063	0.88[AFR][1000 genomes]
rs7608471	0.82[ASN][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv524003	chr2:47543245-47590034	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv581756	chr2:47552706-47590930	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47570600-47573600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:47572200-47573800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr2:47572400-47573800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr2:47572600-47573800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr2:47572600-47573800	Flanking Active TSS	Fetal Brain Female	brain
6	chr2:47572600-47573800	Weak transcription	Lung	lung
7	chr2:47572600-47574000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:47572600-47574000	Weak transcription	Pancreas	Pancrea
9	chr2:47572600-47574200	Weak transcription	Gastric	stomach
10	chr2:47572600-47574400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:47572800-47573600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:47572800-47573600	Weak transcription	Left Ventricle	heart
13	chr2:47572800-47573600	Weak transcription	Right Ventricle	heart
14	chr2:47572800-47573600	Weak transcription	Hela-S3	cervix
15	chr2:47572800-47573800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:47572800-47574000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:47572800-47574000	Weak transcription	Colonic Mucosa	Colon
18	chr2:47572800-47574000	Weak transcription	Psoas Muscle	Psoas
19	chr2:47572800-47574000	Weak transcription	Right Atrium	heart
20	chr2:47572800-47574000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:47572800-47574600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:47572800-47575000	Enhancers	Stomach Mucosa	stomach
23	chr2:47573000-47573800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:47573000-47573800	Enhancers	Brain Anterior Caudate	brain
25	chr2:47573000-47574000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:47573000-47574000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:47573000-47574000	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:47573000-47574000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:47573000-47574000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:47573000-47574000	Weak transcription	K562	blood
31	chr2:47573000-47574200	Enhancers	Brain Hippocampus Middle	brain
32	chr2:47573000-47574200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:47573000-47574400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:47573000-47574400	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:47573000-47574400	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:47573000-47574600	Enhancers	Fetal Intestine Large	intestine
37	chr2:47573000-47574800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:47573000-47574800	Enhancers	Fetal Stomach	stomach
39	chr2:47573000-47574800	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:47573200-47573800	Enhancers	Fetal Kidney	kidney
41	chr2:47573200-47573800	Enhancers	NH-A	brain
42	chr2:47573200-47574200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:47573200-47574200	Enhancers	Fetal Brain Male	brain
44	chr2:47573200-47574400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:47573200-47574400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:47573200-47574400	Enhancers	Fetal Lung	lung
47	chr2:47573200-47574600	Enhancers	Fetal Heart	heart
48	chr2:47573200-47574600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr2:47573200-47574800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:47573200-47574800	Enhancers	Fetal Intestine Small	intestine

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