Variant report

Variant	rs9879869
Chromosome Location	chr3:45769740-45769741
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	chr3:45769554-45769754	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:45767696..45769273-chr3:45769640..45771603,2	MCF-7	breast:
2	chr3:45634672..45636420-chr3:45769621..45771972,2	K562	blood:
3	chr3:45768079..45770190-chr3:45770514..45773269,2	K562	blood:

Variant related genes	Relation type
SACM1L	TF binding region
ENSG00000144791	Chromatin interaction
ENSG00000211456	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1883091	1.00[YRI][hapmap]
rs9879729	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34130	chr3:45609075-45796657	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking 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	21 gene(s)	inside rSNPs	diseases
2	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv876735	chr3:45764246-45832052	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45732400-45772000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:45733000-45777800	Weak transcription	Colonic Mucosa	Colon
3	chr3:45734200-45778000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:45735200-45772000	Weak transcription	Small Intestine	intestine
5	chr3:45741600-45790000	Strong transcription	Fetal Thymus	thymus
6	chr3:45743400-45772000	Weak transcription	Psoas Muscle	Psoas
7	chr3:45745000-45782600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr3:45748200-45776000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:45753000-45776000	Weak transcription	Esophagus	oesophagus
10	chr3:45753200-45778000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:45754200-45790000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:45754600-45780400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:45754800-45779200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:45755200-45771800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:45757200-45777400	Weak transcription	Gastric	stomach
16	chr3:45758000-45770800	Weak transcription	NHEK	skin
17	chr3:45758200-45770200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:45758200-45770200	Weak transcription	Fetal Intestine Small	intestine
19	chr3:45758200-45772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:45758200-45774400	Weak transcription	Lung	lung
21	chr3:45758200-45775600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:45758800-45772000	Weak transcription	Aorta	Aorta
23	chr3:45758800-45772000	Weak transcription	Spleen	Spleen
24	chr3:45759000-45771200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:45759400-45772000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:45759400-45772000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:45761600-45777400	Weak transcription	Stomach Mucosa	stomach
28	chr3:45762400-45774400	Weak transcription	Fetal Stomach	stomach
29	chr3:45763000-45771000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:45763200-45779600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:45763400-45790000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:45763800-45772000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:45764000-45777400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:45764000-45779400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:45764400-45770200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:45764400-45771000	Weak transcription	Hela-S3	cervix
37	chr3:45764400-45778000	Weak transcription	Pancreas	Pancrea
38	chr3:45764600-45770800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:45764600-45772000	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:45764600-45772000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:45764600-45772000	Weak transcription	HMEC	breast
42	chr3:45764800-45770200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:45764800-45771800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:45764800-45773000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:45764800-45773200	Weak transcription	Brain Substantia Nigra	brain
46	chr3:45764800-45774600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:45765000-45772000	Weak transcription	NHDF-Ad	bronchial
48	chr3:45765000-45784200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr3:45765200-45772000	Weak transcription	NHLF	lung
50	chr3:45765400-45771000	Weak transcription	HSMMtube	muscle

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