Variant report

Variant	rs639345
Chromosome Location	chr3:42644866-42644867
allele	A/C
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	RCOR1	chr3:42644576-42645088	K562	blood:	n/a	n/a
2	ARID3A	chr3:42644662-42645135	K562	blood:	n/a	n/a
3	CEBPB	chr3:42644652-42645287	K562	blood:	n/a	chr3:42644802-42644813
4	JUND	chr3:42644758-42645144	K562	blood:	n/a	n/a
5	CEBPB	chr3:42644736-42644933	HepG2	liver:	n/a	chr3:42644802-42644813
6	ZNF384	chr3:42644041-42645540	K562	blood:	n/a	n/a
7	POLR2A	chr3:42644601-42645223	K562	blood:	n/a	n/a

Variant related genes	Relation type
SEC22C	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs638904	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv876730	chr3:42643935-42667936	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42642800-42646200	Weak transcription	Spleen	Spleen
2	chr3:42643000-42646200	Weak transcription	Pancreas	Pancrea
3	chr3:42643000-42650000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:42643000-42650000	Weak transcription	Esophagus	oesophagus
5	chr3:42643200-42648400	Weak transcription	Placenta	Placenta
6	chr3:42643200-42649600	Weak transcription	Lung	lung
7	chr3:42643200-42672800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:42643400-42647800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr3:42643600-42645600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:42643600-42648400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:42643600-42675000	Weak transcription	Aorta	Aorta
12	chr3:42643800-42645400	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr3:42643800-42671200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:42644000-42645000	Weak transcription	Primary B cells from cord blood	blood
15	chr3:42644000-42645000	Enhancers	Psoas Muscle	Psoas
16	chr3:42644000-42645000	Weak transcription	HSMM	muscle
17	chr3:42644000-42645200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr3:42644000-42645200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:42644000-42645200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:42644000-42645200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr3:42644000-42645600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:42644000-42645600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:42644000-42645600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr3:42644000-42645800	Enhancers	Liver	Liver
25	chr3:42644000-42645800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:42644000-42645800	Enhancers	Duodenum Mucosa	Duodenum
27	chr3:42644000-42645800	Enhancers	A549	lung
28	chr3:42644000-42646200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:42644000-42646400	Weak transcription	Stomach Mucosa	stomach
30	chr3:42644000-42646800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:42644000-42647000	Weak transcription	Right Ventricle	heart
32	chr3:42644000-42647000	Enhancers	NHEK	skin
33	chr3:42644000-42647200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:42644000-42647200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr3:42644000-42647200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:42644000-42647600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:42644000-42648200	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:42644000-42648400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:42644000-42649800	Weak transcription	Right Atrium	heart
40	chr3:42644000-42660000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:42644000-42671000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:42644000-42671200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:42644000-42671400	Weak transcription	HSMMtube	muscle
44	chr3:42644000-42672000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:42644200-42645000	Weak transcription	Adipose Nuclei	Adipose
46	chr3:42644200-42645000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr3:42644200-42645000	Weak transcription	Fetal Lung	lung
48	chr3:42644200-42645000	Active TSS	GM12878-XiMat	blood
49	chr3:42644200-42645200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:42644200-42645200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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